Rare Disease Report

WorldSymposium Poster Titles Now Available

JANUARY 22, 2015
James Radke

The titles of the posters being presented at WORLDSymposium 2015 have been announced, and it is an impressive list of who's who in the lysosomal disease space, as well as a plethora of basic, transitional, and clinical data being presented in the 300+ posters.

Below are the poster titles and the names of the presenting authors. Abstracts will be published in the February 2015 special “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM). The journal is usually available in late January or early February. Registered attendees of WORLDSymposium 2015 will receive an electronic copy of the abstracts at the conference.

The WORLDSymposium is the conference for lysosomal diseases and is being held in Orlando, Florida, February 9-12, 2015. Presenters are scheduled to be at their posters on Tuesday, February 10, and Wednesday, February 11, 4:30‐6:30 PM.

To learn more about the World Symposium, visit http://www.worldsymposia.org/

Poster Presenters and Titles

Magy Abdelwahab
Abnormal behavioral features in Egyptian children with type III Gaucher disease
Magy Abdelwahab
Splenectomy in eight Egyptian patients with type III Gaucher disease: an 8 year prospective study
Walter Acosta
Lectin‐mediated ERT delivery: correcting lysosomal disease pathologies using novel cell uptake mechanisms
Alia Ahmed
Is somatic disease burden associated with brain disease phenotype in MPS I?
Suhail Alam
A new formulation for the treatment of neurological and systemic defects in Niemann‐Pick disease type C
Taciane Alegra
Is melanogenesis disturbed in mucolipidosis II/III? A multicenter study based on clinical and genetic findings
Nadia Ali
Psychological health in adults with Morquio Syndrome
Einat Almon
Novel treatment for Fabry disease, IV administration of plant derived alpha‐GAL‐A enzyme phase ½ safety and efficacy study: interim clinical report
Marcio AndradeCampos
Multiple myeloma and Gaucher disease share features of a cytokine profile
Marcio AndradeCampos
Prospective study of plasma biomarkers associated with the inflammatory response in type 1 Gaucher disease patients treated during one year with velaglucerase alpha.
Carolina Aranda
Immunology of mucopolysaccharidosis
Andrea Atherton
Newborn screening for Fabry disease: is the A143T allele a pathogenic mutation or a pseudodeficiency allele
Andrea Atherton
The first two years of full population pilot newborn screening for lysosomal disorders: the Missouri experience
Christiane AurayBlais
Galabiosylceramide isoforms/analogues as biomarkers for Fabry disease patients
Christiane AurayBlais
Mass spectrometry multiplex analysis of urinary glycosaminoglycans for mucopolysaccharidose patients
Christiane AurayBlais
Urine keratan sulfate (uKS) elevation in lysosomal disorders: comparison of uKS levels in Morquio/MPS IV versus non‐Morquio lysosomal disorder
Stephanie Austin
Further expanding the phenotype of treated infantile onset Pompe disease
Lauren Bailey
Avascular necrosis in neuronopathic Gaucher despite high‐dose enzyme replacement therapy
Laurie Bailey
Combination therapy (eliglustat + velaglucerase alfa) in a pediatric patient with Gaucher disease type 1 and hereditary spherocytosis
Guilherme Baldo
Elosulfase alfa decreases glycosaminoglycan storage in white blood cells from Morquio syndrome type A patients undergoing enzyme replacement
Edgar Barajas
Osteomyelitis in a breastfed child with Gaucher disease type I with an indistinguishable bone crisis
Miguel BarbaRomero
Fabry disease in untreated women with enzyme replacement therapy: symptomatology and clinical profile
Spyros Batzios
Alterations in gait pattern in Hunter disease patients undergoing enzyme replacement therapy as assessed by the GaitRite system: a six year follow up
Michael Beck
Long‐term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry Outcome Survey analysis
David Bedwell
The nonsense suppression drug PTC124 restored alpha‐l‐iduronidase activity and reduces glycosaminoglycan accumulation in MPS IH mice carrying the Idua‐W402X mutation
Peter Bell
Evaluating the impact of systemic AAV9.cIDUA administration on brain pathology in MPS I dogs
Nadia Belmatoug
Skeletal involvement in Gaucher disease at MRI: what long‐term evolution can we expect under enzyme replacement therapy.
MarieFrançoise Ben Dridi
Clinical characteristics of type III Gaucher disease in children and adolescents enrolled in a trial of velaglucerase alfa
Lisa Berry
Support for siblings of children with lysosomal disorders
Debora Bertholdo
Correlation between brain MR spectroscopy and BMB score in type 1 Gaucher disease: is there any?
Daniel Bichet
Migalastat reduces left ventricular mass index in Fabry patients naïve to ERT and previously treated with ERT
Marieke Biegstraaten
Consensus recommendations on initiation and cessation of enzyme replacement therapy in patients with Fabry disease
Olaf Bodamer
Correlation between birth weight, disease severity and outcomes in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS)
Daniel Borger
Impaired autophagy leads to inflammasome activation and a heightened inflammatory profile of macrophages in Gaucher disease
Noelle Brackett
The impact of bone marrow transplant treatment for mucopolysaccharidosis type IH on family functioning: social, emotional and financial factors
Alexander Broomfield
The UK experience of enzyme replacement therapy in patients with infantile onset Pompe disease
AnneSophie BrouardLapointe
Rare diseases and patient organization collaboration in the medical research: analysis of the issues with all the protagonists
Dakota Buhrman
Longitudinal assessment of autistic behaviors in children with Sanfilippo syndromes types A and B
Derek Burke
Lysosomal β‐glucosidase (GBA1) and non‐lysosomal β‐glucosidase (GBA2), potential involvement in the pathogenesis of Gaucher disease/Parkinson disease
Thomas Burrow
Description of later onset presentations of neuronal ceroid lipofuscinosis due to mutations in CTSD
Barbara Burton
Results of a global phase 3, randomized, double‐blind, placebo‐controlled trial evaluating the efficacy and safety of sebelipase alfa as an enzyme replacement therapy in children and adults with lysosomal acid lipase deficiency
Barbara Burton
Impact of elosulfase alfa on exercise capacity and muscle strength and safety in patients with Morquio syndrome type A
Sharon Byers
MPS GAG modulate mesenchymal stem cell differentiation
Stephanie Cagle
Clinical outcomes and biochemical data following hematopoietic stem cell transplantation in a patient with Hunter syndrome
Marli Camelier
Galactocerebrosidase assay on dried‐leukocytes impregnated in filter paper for the detection of Krabbe disease
Fabrice Camou
Gaucher disease: lived experience of patients in the context of a French national patient therapeutic education program
Jorge Cebolla
Experience with 7‐ketocholesterol and CCL18/PARC as surrogated biomarkers in a series of Spanish Niemann‐Pick disease type C patients
Jorge Cebolla
New haplotype of Fabry disease among patients screened for left ventricular hypertrophy of unknown cause
Agnes Chen
A study of intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis I
Yehudit Chen Zion
Quality of life and Gaucher disease
WeiChieh Cheng
Combinatorial approach toward rapid synthesis of iminosugar‐based libraries: development of new β‐glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease
YinHsiu Chien
A high incidence of Fabry disease variants argues against newborn screening: outcomes of the Taiwan pilot
EunYoung Choi
Choroid plexus‐directed viral gene therapy for α‐mannosidosis, a prototypical lysosomal disease
Jason Cournoyer
An FIA MS/MS method to simultaneously measure ABG, ASM, GAA, GALC, GLA and IDUA activity in dried blood spots
JouKu Chung
Pharmacokinetics and biodistribution of idursulfase in non‐human primates after intrathecal‐lumbar administration
Heather Church
Prediction of CRIM status in Pompe disease using cultured chorionic villi.
Nicholas Clayton
Antisense oligonucleotide‐mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of Pompe disease
Maureen Cleary
Early predictors of neurological involvement scoring system in mucopolysaccharidosis type 2: does it help?
Lisa Coles
Repeated‐dose oral N‐acetylcysteine: effect on brain and blood glutathione concentrations
Timothy Cox
ENCORE, a randomized, controlled, open‐label non‐inferiority study comparing eliglustat to imiglucerase in Gaucher disease type 1 patients stabilized on enzyme replacement therapy: 24‐month results
Renata Cravo
Taliglucerase alfa: Rio de Janeiro experience at Hemorio
Marco Curiati
Enzyme replacement therapy for mucopolysaccharidosis type II: experience from a Brazilian reference center
Sheng Dai
Rapid kinetics of beta‐cyclodextrin entering and exiting cells: Implication of its mechanism on reduction of cholesterol accumulation in Niemann‐Pick disease type C cells
Cristin Davidson
Combinatorial therapy for Niemann‐Pick disease type C: treatment of an NPCI murine model with 2‐hydroxypropyl‐beta‐cyclodextrin and miglustat
Carolina de Souza
Broad clinical and laboratory spectrum found in 9 Niemann‐Pick disease type C Southern Brazilian patients
Carolina de Souza
Diagnosing communicating hydrocephalus in mucopolysaccharidoses: correlation between cerebrospinal fluid flow imaging and lumbar pressure studies
Patrick Deegan
Predictors of fracture in treated Gaucher patients
Russell DeKelver
ZFN‐mediated genome editing of albumin “safe harbor” in vivo results in supraphysiological levels of human IDS, IDUA and GBA in mice
Kathleen Delaney
Methods for cognitive assessment of children and adults with lysosomal diseases
Robert Desnick
Fabry disease: the α‐galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5'‐10C>T polymorphism
James DiPerna
A new MS/MS method to measure MPS IVA and MPS VI enzyme activities in dried blood spots
Colleen Doyen
Home infusion or infusion center decision criteria
Karen DublanGarcía
Fabry disease in a male patient: de novo mutation, germline mosaicism or
Shaalee Dworski
Spatial distribution of brain ceramides in an acid ceramidase deficient murine model: subsequent histological manifestations and functional deficits
Jonathan Dyke
Comparison of cortical thinning in late infantile neuronal ceroid lipofuscinosis with a normative pediatric population using magnetic resonance imaging
Deborah Eastwood
The management of thoracolumbar deformity in the mucopolysaccharidoses
Johanneke Ebbink
Long−term neuropsychological follow−up in a patient with α−mannosidase
Julie Eisengart
Clinical outcomes of Hurler syndrome treated exclusively with enzyme replacement therapy from a young age
Sean Ekins
Phoenix Nest: starting a small company focused on Sanfilippo syndrome
Stuart Ellison
Pre‐clinical workup of lentiviral mediated stem cell gene therapy for mucopolysaccharidosis type IllA
Deborah Elstein
The need for disease‐specific patient‐reported outcome measures for lysosomal disorders
Jeffrey Esko
Intranasal enzyme replacement therapy in mice
Fatih Ezgü
Importance of family screening in Fabry disease: reaching the bottom of the iceberg
Andressa Federhen
MPS I and MPS II: minimal estimated incidence in Brazil and comparison to the rest of the world
Sergio FigueroaSauceda
Charcot arthropathy in a patient with Fabry disease
Niamh Finnegan
Project to empower young type III Gaucher disease patients to shape the future
Haiyan Fu
Restoration of NAGLU activity by a single systemic rAAV9 vector delivery led to the correction of widespread metabolomic dysfunction in MPS IIIB mice
Qi Gan
Newborn screening for mucopolysaccharidoses: determination of sensitivity, specificity and cut‐off score
José GarciaOrtiz
Biochemical diagnosis of mucopolysaccharidoses in Mexico: preliminary results in a reference center
Scott Garman
Pharmacological chaperoning in Fabry and Schindler diseases
Michael Gelb
Newborn screening for lysosomal disease by tandem mass spectrometry: from development to worldwide implementation
Dominique Germain
A 10‐year study documenting the long‐term effectiveness of agalsidase‐beta treatment in 52 adult patients with classic Fabry disease
Javier GervasArruga
Complex intronic haplotype in Fabry disease
Arunabha Ghosh
Use of enzyme replacement therapy prior to haematopoietic stem cell transplantation for severe mucopolysaccharidosis I, a 10 year, 2‐center retrospective review
Arunabha Ghosh
Haematopoietic stem cell transplantation in 3 patients with attenuated mucopolysaccharidosis type I with homozygous p.Leu490Pro mutation
Janine Gilkes
Evaluation of biodistribution and transduction profiles of novel AAV8 capsid mutated variants as a therapeutic candidate for the treatment of MPS IIIB
Roberto Giugliani
Oxysterol measurement in plasma: a potentially useful tool for the screening of Niemann‐Pick disease type C
Ozlem GokerAlpan
Effect of time of initiating enzyme replacement therapy on immune dysfunction in patients with Gaucher disease
Ashley Gonzalez
Modeling the association between Gaucher disease and Parkinson disease using in vivo mouse models
Russell Gotschall
Novel recombinant human acid α‐glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock‐out mice
Rabia Gowa
Fabry disease and pain control
Shane Grace
Age‐dependent gene expression profile analysis in Morquio syndrome type A mouse cartilage tissue
Sue Graham
The Morquio A Registry Study (MARS): improving the understanding of Morquio syndrome type A
Sue Graham
Impact of mucopolysaccharidosis on daily living, employment, general health and parenthood of adult patients
Perry Hackett
Non‐viral gene therapy by liver‐directed hydrodynamic delivery of Sleeping Beauty transposons to treat MPS in dogs
Bryan Hall
Microwave assisted CLARITY for whole organ surveillance
Takashi Hamazaki
Successful cord blood transplantation for Hurler syndrome patient with hightiter neutralizing antibody against α‐l‐iduronidase
Rick Hamler
Accurate quantitation of plasma globotriaosylsphingosine (lyso‐Gb3) in normal individuals and Fabry patients by liquid chromatography‐tandem mass spectrometry (LC‐MS/MS)
SangOh Han
Propranolol decreases the efficacy from enzyme replacement therapy in
Pompe disease
Paul Harmatz
Impact of elosulfase alfa on pain in patients with Morquio syndrome type A
Katie Harvey
A comparison of plasma, leucocyte and dried blood spot α‐galactosidase assays as first line diagnostic tests for Fabry disease
Katie Harvey
Prognostic utility of rapid leucocyte‐based assay of α‐glucosidase crossreactive immunological material (CRIM) patterns in patients with Pompe disease
Alev Hasanoglu
The results of enzyme studies in the diagnosis of lysosomal diseases: 8 years experience of Gazi University, Ankara, Turkey
Christian Hendriksz
Antibody response to investigational intrathecal enzyme replacement therapy with idursulfase‐IT in pediatric Hunter syndrome patients with cognitive impairment
Christian Hendriksz
The evaluation of psychological therapy interventions to improve emotional wellbeing in patients with lysosomal disorders.
Christian Hendriksz
Risks of long‐term port use in the mucopolysaccharidosis patient population
Eric Herbig
Sleeping Beauty engineered human B lymphocytes express therapeutic levels of human iduronidase: a new approach for mucopolysaccharidosis type I
Stacy Hewson
Abdominal pain and mucosal hyperplasia of the gallbladder leading to a diagnosis of metachromatic leukodystrophy (MLD)
Wendy Heywood
Urine biomarker discovery using label free proteomics reveals novel markers for the monitoring of treatment for mucopolysaccharide disorders
Robert Hopkin
Risk factors for severe clinical events and the incidence of these events in male and female patients with Fabry disease treated with agalsidase beta
Mia Horowitz
Presence of mutant GBA allele leads to ER stress and development of Parkinson disease
TingRong Hsu
Taiwanese patients with the Chinese IVS4+919G>A mutation who underwent endomyocardial biopsy: data from the Fabry Outcome Survey (FOS)
Derralynn Hughes
Fabry Disease: impact of ERT on renal function. Single‐centre 5‐year results
Derralynn Hughes
Long‐term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: phase 3 study results
Pilar Irún
Proteomic profile of osteoclasts in Gaucher disease patients according to the severity of bone manifestations
Margarita Ivanova
Impact of enzyme replacement therapy on lysosomal function in Gaucher disease
Matilda Jackson
α‐L‐iduronidase transduced mesenchymal stem cells improve the behavioural deficits in mucopolysaccharidosis type I mice
Roland Jaussaud
Patients’ need to design a patient education program in Fabry disease (Filigrane)
Simon Jones
Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency
Simon Jones
Enzyme replacement therapy (ERT) for mucopolysaccharidosis VII (MPS VII; Sly Syndrome) reduces lysosomal storage in a 36‐week phase 1/2 clinical study
Patricia Kane
Optimizing neurometabolic function in lipid storage disorders by addressing epigenetics with phospholipid therapy
Amel Karaa
Expanding the clinical spectrum of the lysosomal disorders with whole exome sequencing
Nesrin Karabul
Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey
Nesrin Karabul
Pedigree analysis: a call to action to raise awareness of Fabry disease and the importance of family history evaluation
Zoheb Kazi
Proteomics to identify signature proteins in patients likely to mount an immune response to enzyme replacement therapy in infantile Pompe disease
Maria Keever
A study to identify individuals at risk to be affected with late‐onset Pompe disease with previous non‐specific diagnoses
Jenny Kim
Gaucher disease and Parkinsonism: clinical course and prognosis
Kellie King
Average age at diagnosis for Sanfilippo syndrome: a case for newborn screening
Kelly King
Neurobehavioral outcomes in Sanfilippo syndrome type B compared to type A
Sandra Kingma
A study on the influence of glycosaminoglycan and growth factor interaction in mucopolysaccharidosis type I bone disease
Sandra Kingma
Adverse effects of genistein in mucopolysaccharidosis type I cell and mouse models
Masafumi Kinoshita
The characterization of mouse model of mucopolysaccaridosis type II
Priya Kishnani
Prophylactic immume modulation in infantile Pompe disease; collective experience treating CRIM‐positive and negative patients in the naive setting
Priya Kishnani
The Pompe Registry: 10 years of data
Keisuke Kitakaze
Development of protease−resistant modified human β−hexosaminidase B and evaluation of intracerebroventricular replacement effects on GM2 gangliosidosis model mice
Nilima Kolli
Molecular basis of sialidosis and its treatment
Francyne Kubaski
Analysis of C6S/C4S ratio in Morquio syndrome type A patients
Francyne Kubaski
Chondroitin 6‐sulfate as a novel biomarker for mucopolysaccharidosis IVA and VII
Francyne Kubaski
Di‐sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis IVA
Francyne Kubaski
Noninvasive pulmonary function test on Morquio syndrome type A patients
Sandra Kyosen
Natural history of mucopolysaccharidosis in a referral center
Jean Lachowicz
Systemic administration of a brain‐penetrant peptide‐iduronidase conjugate results in brain IDUA activity  in MPS I mice
Dawn Laney
Comparison of clinical practice guidelines and actual clinical practice in Fabry disease diagnosis
Eveline Langereis
Progression of hip dysplasia in MPS I patients (Hurler syndrome) after successful hematopoietic stem cell transplantation
Heather Lau
Multiple mechanisms of ophthalmologic involvement in attenuated Hunter syndrome: a case report
Heather Lau
Tremor and peripheral neuropathy are infrequent and non‐serious events in Gaucher type 1 patients treated with eliglustat
Christine Lavery
Pedigree analysis in patients with Fabry disease: evaluating changes in referral and diagnosis over successive generations
Christine Lavery
Raising awareness of lysosomal diseases amongst British medical students
Alexandria Lee
Development of a less immunogenic protein for enzyme replacement therapy of Morquio syndrome type A disease
Malte Lenders
Thromboembolic events in Fabry disease and the impact of factor V Leiden
Paul Levy
Experiences from setting up a 5 year longitudinal, prospective, natural history study of patients with Sanfillipo syndrome types C or D (MPS IIIC or MPS IIID)
Lishu Li
Two masters of lysosomal and autophagosomal biogenesis, TFEB and TFE3, and their potential therapeutic value in Pompe disease
Renuka Limgala
Gastrointestinal manifestations of immune dysregulation and Gaucher disease: mesenteric lymphadenopathy and enteropathy with profound T cell defects
Renuka Limgala
Role of non‐classical monocytes in Gaucher disease severity
Emily Lisi
Do the benefits outweigh the harms? Views of patients with later onset LSD on newborn screening
Valynne Long
Trabeculae bone structure analysis in individuals affected by type 1 Gaucher disease using micro magnetic resonance imaging
Yan Long
Niemann‐Pick disease type A: induced pluripotent stem cells for disease modeling and compound screening
Yan Long
Cellular distribution and mechanism of delta‐tocopherol on reduction of lysosomal cholesterol accumulation in cells with Niemann‐Pick disease type C
Monica LopezRodriguez
Alpha‐mannosidosis and compassionate use of alpha‐mannosidase (Lamazym™): two case reports
Charles Lourenco
“Night, night, sleep tight?”: sleep disorders in Fabry disease, recognizing an overlooked feature of a complex lysosomal disorder
Fernanda Ludwig
Updates in biochemical and molecular diagnosis of Brazilian patients with mucolipidosis II/III alpha/beta
Yi Lun
Histological examination of the effect of a highly phosphorylated proprietary recombinant human acid alpha‐glucosidase on glycogen reduction in diseaserelevant muscles of Pompe mice
Alexandra Malinowski
Evaluation of United States schools and colleges of pharmacy curriculum to assess education on lysosomal diseases
Thorsten Marquardt
Cystinosis: missing the diagnosis for more than 50 years
Thorsten Marquardt
Cystinosis treatment: kinetics of different cysteamine formulations and fluctuations of intracellular cystine levels
John Marshall
Evaluation of a novel substrate reduction therapy with CNS access in mouse models of neuronopathic Gaucher disease
Ana Martins
Outcome of pregnancy in Gaucher disease patients treated and not treated with imiglucerase
Paul McIntosh
Characterization of gait in late onset Pompe disease
Douglas McKechnie
Long term clinical outcomes in patients with Fabry disease receiving enzyme replacement therapy
Casey McKenna
Pregnancy in an adult with Maroteaux‐Lamy syndrome: a case report
Blanca Medrano Engay
Gastrointestinal disturbances, lactose intolerance and Gaucher disease
Olga Meijer
N‐acetyl‐α‐glucosaminidase activity in fibroblasts of patients with Sanflippo disease type B cultured at 30°C is associated with phenotypic severity
Matthew Metcalf
Characterization of a potential next generation enzyme replacement molecule for the treatment of Fabry disease
Langis Michaud
Vascular tortuosities of the upper eyelid: a new clinical finding in Fabry patient screening
Kevin Mills
The development of a multiplexed, rapid, mass spectrometry‐based test for new and existing biomarkers to identify and monitor kidney disease in pediatric Fabry disease patients
Pramod Mistry
ENGAGE ‐‐ a phase 3, randomized, double‐blind, placebo‐controlled, multicenter study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: results after 18 months
Ken Momosaki
Newborn screening of Pompe disease in Japan: 2 years experience
Juan MontesRamírez
Fabry disease in a Mexican family: a novel GLA gene mutation and the relevance of extended family tree investigation disease
Isabelle Morin
Ear, nose and throat and hernia surgeries in children with Hunter syndrome: data from the Hunter Outcome Survey (HOS)
Joseph Muenzer
Long‐term biomarker and cognitive follow up of children with Hunter syndrome receiving intrathecal enzyme replacement therapy
Behzad Najafian
Enzyme replacement therapy in Fabry disease reduces podocyte globotriaosylceramide (GL3) content within a year
Behzad Najafian
Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease
Diana Najarian
An inter‐laboratory comparison study of detection and characterization of anti‐velaglucerase Alfa antibodies
John Naleway
Novel live cell screening platform for small molecules to enhance enzyme activity in Gaucher disease
John Naleway
Targeted chaperone therapy agents for Gaucher disease
Luba Nalysnyk
Imiglucerase treatment associated with reduction of bone claims in Gaucher patients: analysis of US claims data
Leyla NamazovaBaranova
Haemostatic system at diseases of the cardiovascular system in children
Juana Navarrete
Genotype‐phenotype correlation in lysosomal diseases detected by lysosomal newborn screening in Mexico
Jazmin Navarro Munguia
Mucopolysaccharidosis I enzyme replacement treatment: experience of 3 cases in a 3rd level hospital, Hospital Infantil de Mexico Federico Gomez
Igor Nestrasil
Brain volumes and cognitive function in MPS IIIB (Sanfilippo Syndrome Type B): Cross‐sectional study
Matthew Nguyen
Development of a novel neuronal cell model for investigating the link between glucocerebrosidase and Parkinson disease
DauMing Niu
When is the best time to start enzyme replacement therapy in patients with cardiac‐type Fabry disease? Experience from Taiwan, an area highly prevalent in this cardiac phenotype
Claire O'Leary
Development of an adeno‐associated viral vector for mucopolysaccharidosis IIIC
Ilyas Okur
Identification of novel mutations and prevalence for Fabry disease (FD) via screening studies using dried blood samples (DBS) among hemodialysis patients in Turkey
Aida OlivánViguera
Characterization of monocyte / macrophage KCa3.1 channels in Gaucher disease
196 Alberto Ortiz
Occurrence of severe clinical events by time on agalsidase beta among patients with Fabry disease
David Palmer
Effective gene therapy in ovine CLN5 Batten disease
Luying Pan
A comparison study of methods for detection and characterization of antiidursulfase antibodies
Samantha Parker
AAVrh10‐SGSH intracerebral gene therapy corrects the defect and improves the health status in mucopolysaccharidosis type IIIa
Marzia Pasquali
Urine karatan sulfate (uKS) in Morquio syndrome type A patients measured via LC‐MS/MS method: improved KS detection as compared to dye‐based methods and report of age‐specific uKS reference ranges
Sun Peck
Failed vertebral bone formation in mucopolysaccharidosis VII dogs is associated with impaired chondrocyte hypertrophic differentiation
Maria Pedroso
High prevalence of liver diseases in patients with type I Gaucher disease in a specialized center: Is there an association with other genetically‐determined liver disorders?
Jeff Peng
Improved respiratory function in a mouse model of Pompe disease treated with BMN 701
Ester Pereira
Generation of Fabry disease kidney cell lines using genome editing by CRISPR/Cas9
Jordi PérezLópez
Epidemiological assessment of Spanish patients with type 1 Gaucher disease using the therapeutic goals MAP Tool®
M. Judith Peterschmitt
Clinical response to eliglustat in treatment‐naive patients with Gaucher disease type 1: post‐hoc comparison to imiglucerase in a real‐world setting
Rebecca Pleat
Concomitant medication use and comorbidities in adult patients with Gaucher disease type 1: results from the MarketScan™ database
Rebecca Pleat
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: analysis of eight sibling pairs
Lynda Polgreen
Impact of laronidase on shoulder, elbow, and hip range of motion in children with Hurler syndrome after hematopoietic cell transplantation
Juan Politei
Fabry disease and ERT experience in 12 classic patients: different formulations, different outcome?
Juan Politei
Fabry disease: Late onset variant in proteinuria and dialysis screening: be prepared for more cases, and more questions
Laura Pollard
Clinical validity of beta‐glucosidase and alpha‐iduronidase enzyme analysis in dried blood spots
Katherine Ponder
Intrathecal injection of lentiviral vector results in high expression in the brain of mucopolysaccharidosis VII dogs but the pattern of expression is different than for AAV9 or AAV‐rh10
Sean Prater
Consideration of increased dosing of alglucosidase alfa to achieve improved clinical outcomes in infantile Pompe disease
Helen Prunty
Glucose tetrasaccharide (Glc4) instability in urine, resolved by use of a special collection tube
Helen Prunty
Improved method for the analysis of urinary glucose tetrasaccharide (Glc4) by high pressure liquid chromatography (HPLC)
Alexey Pshezhetsky
Brain disease in mucopolysaccharidosis IIIC mouse: neuroinflammation, mitochondrial defects and neurodegeneration
Adrian Quartel
Pulmonary function predictors (VC, FVC, MIP, MEP) of respiratory insufficiency in late‐onset Pompe
Enzo Ranieri
The feasibility of using an MS/MS based method with Perkin Elmer lysosomal disease reagents to implement a newborn screening test for six lysosomal disorders
Matthew Reed
Changes in peripheral blood osteoclast cultures in relation to therapeutic effects in Gaucher disease
Janine Reunert
Improved diagnostics of Niemann‐Pick disease type C by the analysis of plasma oxysterols
Jane Roberts
Unexpected issues around the temporomandibular joint in patients with MPS
Richard Rogers
Screening an orthopedic population for mildly‐affected individuals with Morquio syndrome type A and Maroteaux‐Lamy syndrome
Sandra RojasCaro
Effect of sebelipase alfa after 2 years in adults with lysosomal acid lipase deficiency
Juan RomeroTrejo
Ventricular tachyarrhythmias in Fabry disease: relevance of enzyme replacement therapy dose apropos of a case
Hanna Rosenbaum
The role of fibrosis in Gaucher disease
Vivian Rotman
Transitory elastography (TE) in patients with Gaucher disease
Paula Rozenfeld
Effect of glucocerebrosidase (GC) deficiency in osteoblasts on mineralization and osteoclastogenesis: implications for bone pathology in Gaucher disease
Stephan Rust
A variant in NPC type 2 disease, that is more frequent than NPC1
Adeel Safdar
Therapeutic potential of exosomes in Pompe disease: treatment of tomorrow, today for lysosomal diseases
Hitoshi Sakuraba
Determination of the structure of human α‐L‐iduronidase and structural basis of mucopolysaccharidosis type Ι
Saikat Santra
Desensitisation to galsulfase for the treatment of recurrent infusion association reactions in a child with MPS VI
Saikat Santra
Levomepromazine as a treatment for non‐epileptic movement disorder in advanced neurodegenerative lysosomal disorders
Saikat Santra
Very early umbilical cord blood transplantation delays but does not prevent neurodegeneration in infantile Sandhoff disease
Imre Schene
Therapeutic options for patients with neuraminidase deficiency
Raphael Schiffmann
A prospective 10 year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease
Raphael Schiffmann
Improvement in gastroinstestinal symptoms observed in the phase 3 FACETS (AT1001‐011) study of migalastat in patients affected with Fabry disease
Erica Schindewolf
"Who is the deciding factor?" Analysis of parental perspectives regarding discontinuation of elaprase in children with MPS II
Joseph Schneider
Prevalence of hypothyroidism in adult‐onset Pompe disease
Edward Schuchman
Novel use of the lysosomal enzyme acid ceramidase for the treatment of inflammatory lung diseases, including cystic fibrosis
Becky Schweighardt
Immunogenicity of elosulfase alfa, an enzyme replacement therapy in patients with Morquio syndrome type A: results from MOR‐004, a phase 3 trial
C. Ronald Scott
Identification of newborn infants at risk for a lysosomal disease by tandem mass spectrometry
Annalisa Sechi
Acute effect of enzyme replacement therapy on exercise tolerance in late onset Pompe patients
Jinsong Shen
Establishment of immortalized endothelial cell lines from Fabry mouse aorta
Rosângela Silva
Exercise in lysosomal diseases
Angela Simcox
Treatment decision making for parents of children with lysosomal disorders in the era of rapidly advancing medical options
Calogera Simonaro
Pentosan polysulfate: new mechanistic insights and treatment of the mucopolysaccharidoses
Ernestas Sirka
The development of a rapid, multiplexed UPLC‐MS/MS assay for quantitation of lyso‐Gb3 and Gb3 in dried blood spots
Siyamini Sivananthan
Disease course after cessation of enzyme replacement therapy (ERT) in 5 patients with type II mucopolysaccharidosis (MPS II)
Siyamini Sivananthan
Hematopoietic cell transplant in mucopolysaccharidosis type I: single centre review of age of diagnosis and time to transplant
Melanie Sivley
Conjunctival lymphangiectasias and cysts persist despite long‐term enzyme replacement therapy in males with Fabry disease
Hatice Serap Sivri
Two adult siblings with progressive walking difficulty and visual disturbances
Elizabeth Smith
A patient with mucopolysaccharidosis type I diagnosed at 38 of age with only one identifiable mutation: a case report from the newborn screening perspective
Alexander Solyom
Acid ceramidase deficiency: clinical implications of an emerging phenotypic spectrum and potential therapies
Eser Sozmen
Lekocyte cell surface antigens in Gaucher disease: new implications for B‐cell proliferation and pathogenesis of myelomatosis
Zdenek Spacil
Newborn screening for metachromatic leukodystrophy in dried blood and urine spots
Zdenek Spacil
Pilot studies of tandem mass spectrometry newborn screening for mucopolysacharidoses type II, IIIA, IIIB, and VI
Robert Spiegel
Rationale for ataluren as a potential new treatment in patients with nonsense mutation mucopolysaccharidosis type I (nmMPS I)
Richard Steet
Small molecule modulation of CI‐MPR‐dependent uptake of therapeutic enzymes in patient fibroblasts
Karolina Stepien
A 4‐year follow up study of 24 patients with late onset Pompe disease treated with alglucosidase alfa enzyme replacement therapy at a single centre
Fiona Stewart
Study of an extended 4‐generation family with A143T Fabry mutation: presentation of variable phenotypes including very mildly affected individuals
Akemi Tanaka
Genotype of mucopolysaccharidosis type II severe form and the efficacy of enzyme replacement therapy or hematopoietic stem cell transplantation on cognitive function
Noboru Tanaka
Novel quantification methods for globotriaosylceramide and globotriaosylsphingosine as biomarkers of Fabry disease
Brittany Taylor
Dietary intake of individuals with late onset Pompe disease: a review and comparison to current diet recommendations
Alison Thomas
Gaucher disease results in an acquired mucocutaneous bleeding disorder treatable with enzyme replacement therapy
Alison Thomas
The N215S mutation results in a distinct subtype of Fabry disease
Beth Thurberg
A phase 4 prospective study in patients with adult Pompe disease treated with alglucosidase alfa
Beth Thurberg
Hepatic pathology of acid sphingomyelinase deficiency: Clearance of sphingomyelin with recombinant human acid sphingomyelinase adminstration is associated with improvement in pro‐atherogenic lipid profiles
Adrian Todd
Improving neuromuscular junction pathology using AAV9 gene therapy in Pompe disease
Adviye Tolun
Diagnostic value of a microfluidic based fluorometric enzyme assay platform using dried blood spots for a lysosomal disorder, Fabry disease
Shunji Tomatsu
Activity of daily life in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation
Shunji Tomatsu
Establishment of glycosaminoglycan assays for mucopolysaccharidoses
Shunji Tomatsu
Impact of enzyme replacement therapy and hematopoietic stem cell therapy on growth in patients with Hunter syndrome
Shunji Tomatsu
Long term follow up of post‐hematopoietic stem cell transplantation for Hurler syndrome: clinical biochemical and pathological improvements
Shunji Tomatsu
Novel heparan sulfate assay by using automated high throughput mass spectrometry: application to monitoring and screening for mucopolysaccharidoses
Shunji Tomatsu
Therapies for the bone in mucopolysaccharidoses
Camilla Tøndel
Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria
Takahiro Tsukimura
Comprehensive study of Fabry disease: gene mutation, GLA activity, GLA protein and globotriaosylsphingosine
Leyla Tumer
Isovaleric acidemia and Niemann‐Pick disease type C coexistence and new mutation for Niemann‐Pick disease type C
Kelly Turner
Sanfilippo syndrome type B: reprogramming cultured skin fibroblasts to induced pluripotent stem cells using non‐integrating sendai virus vector
Sara Turner
Respiratory‐related motoneurons are the first to show histopathology in Pompe mice
Sandrine Turpault
CYP2D6 phenotype‐based dosing of eliglustat
Jeanine Utz
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses
Filippo Vairo
Gastrointestinal disorders and miglustat therapy: a case report
Filippo Vairo
Inflammasome during pregnancy in a Gaucher disease patient
Filippo Vairo
Osteopontin: a potential biomarker of Gaucher disease
Filippo Vairo
Taliglucerase alfa to type I Gaucher disease: a south Brazilian experience
Ans van der Ploeg
Anti‐alglucosidase alfa antibodies and infusion‐associated reactions in 73 treated adult Pompe disease patients
Valerie Vernot
Volume compensation to inspiratory loads improves after gene therapy for Pompe disease
Suresh Vijay
Evaluation of blood‐brain barrier integrity and structural abnormalities in MPS IIIb patients using cerebrospinal fluid/serum albumin index (CSF‐AI) and multimodal MRI
Jesus Villarrubia
Correlation between the genotype and the phenotype in type in Gaucher disease in Spanish patients
Charles Vite
Intracisternal cyclodextrin ameliorates neurological dysfunction, increases survival time, and stops Purkinje cell death in feline Niemann‐Pick type C1 disease
Amy Wakumoto
Amygdalar volumes and acquired autistic symptoms in MPS IIIA
Susanne Walls
A new approach to follow‐up of Finnish Fabry patients patient‐based care
JenHon Wang
Rapid synthesis of pyrrolidine‐based iminosugars to develop pharmacological chaperones for disease
Raymond Wang
Carotid intima‐media thickness and arterial stiffness of pediatric mucopolysaccharidosis patients are increased compared to both pediatric and adult populations
Raymond Wang
Human mucopolysaccharidosis IIIa patients do not demonstrate postprandial hypertriglyceridemia, but have increased carotid intima‐media thickness
Raymond Wang
The mucopolysaccharidosis type IIIA murine model demonstrates increased brown adipose activity and energy demand, resulting in postprandial hypertriglyceridemia
Katie Warner
The role of the psychologist in the metabolic team: a patient‐lead approach
Melissa Wasserstein
An open‐label, multicenter, ascending‐repeat‐dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)
Richard Welford
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann‐Pick disease type C in a retrospective study
James Wilson
Adeno‐associated virus vector‐mediated gene therapy can effectively treat CNS and cardiac lesions and induce immune tolerance to the therapeutic enzyme in large animal models of mucopolysaccharidosis type I
Robert Wood
Effect of enzyme replacement therapy on airway abnormalities in patients with Hunter syndrome
Chia Feng Yang
Very early enzyme replacement therapy is “The earlier; the better” for infantile Pompe disease: experience of nationwide newborn screening program in Taiwan
Fabian Yu
Impaired lung function in the acid ceramidase deficient mouse
Aysel Yuce
Skeletal manifestations of children with Gaucher disease type I and type III
Ari Zimran
Comparison of taliglucerase alfa 30 u/kg and 60 u/kg in treatment‐naïve pediatric patients with Gaucher disease
Ari Zimran
Long‐term safety and efficacy of taliglucerase alfa in pediatric patients with Gaucher disease who were treatment‐naïve previously treated with immiglucerase
Ari Zimran
Markers of bone turnover in patients with type 1 Gaucher disease receiving long‐term velaglucerase alfa enzyme replacement therapy

Stay informed on the latest rare disease news and developments by signing up for our newsletter.
Copyright © RareDR 2013-2018 Rare Disease Communications. All Rights Reserved.