Molecular Genetics and Metabolism

Article	Citations
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation	68
Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models	65
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	63
Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses	58
Newborn screening for Gaucher disease in Japan	39
GSD II and two: A case series of Pompe disease with coexisting genetic diagnoses	38
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study	38
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	38
Filipin composition and imaging modality dramatically affect cellular cholesterol visualisation with implications for assessing cholesterol levels and localisation across the lysosomal disorders	36
Characteristics of patients who have switched from alglucosidase alfa to avalglucosidase alfa: Baseline data from the Pompe Registry	32
Estimation of stroke risk in patients with Fabry disease using a machine learning model	30
Case-based education on Gaucher disease significantly improves physician competence in appropriate next steps after suspecting the diagnosis	27
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	27
Quantitative systems pharmacology (QSP) analysis predicts that olipudase alfa treatment of patients with extreme acid sphingomyelinase deficiencies can result in meaningful debulking of visceral tissu	27
Atidarsagene autotemcel, a European post-regulatory approval model for delivery of autologous hematopoietic stem cell gene therapy products via a network of qualified treatment centers (QTCs)	26
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter	24
Safety and compliance of home infusion of velmanase alfa for the treatment of alpha-mannosidosis in the clinical trial and real-world settings	24
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	24
RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model	24
Spontaneous seizures associated with cortical interneuron loss in mice are ameliorated via gene therapy	23
A case of a presumed diagnosis of Morquio syndrome	23
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	22
Resolving variants of unknown significance and pseudodeficiency alleles	22
Empowering the GM1 and GM2 community with a co-created education resource about a natural history study	22
Elimination of the gene normalizes lifespan and prevents pathology in Tay-Sachs disease mice	21

Real-world impact of enzyme replacement therapy on endurance in patients with MPS IVA	21
Raregivers™ Emotional Journey Map presented by ANGEL AID Cares	21
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease	21
Mucopolysaccharidosis type VII treated in the first year of life: A case report	21
The ratio of Niemann-Pick disease type A/B to cases of Gaucher disease varies by country	20
AAV-mediated gene therapy in a mouse model of sialidosis	19
Building a better translational model of neuropathic Gaucher disease	19
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit	19
Lyso-Gb3 determination in classic and late onset Fabry patients	19
Diagnosis of vitamin B deficiencies inducing inherited metabolic diseases (IMD) using GC-MS	18
Single cell resolution of neurodegeneration in Gaucher disease	18
Identification of late-onset GM2 gangliosidoses (LOGG) patients using Optum's de-identified Market Clarity Database	18
Differential expression and localization of NEU1 and NEU4 in the CNS of mouse models of GM2 gangliosidoses	18
Wolman disease presenting with secondary hemophagocytic lymphohistiocytosis	18
Mechanism-guided analysis of avalglucosidase alfa efficacy on key biomarkers and clinical endpoints in late-onset Pompe disease patients	18
Fabry disease: Effectiveness of interactive case-based online education in improving knowledge and competence in diagnosis	17
Home-infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (COMET, NEO-EXT, and Mini-COMET)	17
X chromosome inactivation, ⍺-galactosidase A activity and lyso-Gb in Danish heterozygous females with Fabry disease	17
Extensive diagnostic odyssey for a patient with Gaucher disease	17
Publisher's Note	17
The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders	16
Possible increased incidence of pathogenic deletions in exons 11–17 causing infantile onset Krabbe disease in individuals from Ahmadabad in the Indian state of Gujarat	16
Fabry cardiomyopathy in Finland: A Fabry registry study	16
Synergistic action of the chemical chaperone 4-phenylbutyrate and the pharmacological chaperone migalastat on restoration of α-galactosidase activity of Fabry G258R mutation	16
Clinical, genetic characteristics in Russian patients with Hurler syndrome	16
Table of Contents	16
The getting global rare disease insights through technology (GRIT) study: Patient activation and pain management through a digital app for patients with metabolic genetic disease	16
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes	15
Diagnostic strategy for suspected cases of Fabry disease	15
THE MECHANISM OF CREATINE MEDIATED DOWNREGULATION OF AGAT EXPRESSION	15
WORLDSymposium™ 2022 Author Index	15
Development of formulated resveratrol (micellar resveratrol) as a small molecule treatment for MPS I	15
Table of Contents	15
THE PHARMACOKINETICS OF TASTE-MASKED SODIUM PHENYLBUTYRATE (ACER-001) FOR THE TREATMENT OF UREA CYCLE DISORDERS UNDER FASTING AND FED CONDITIONS IN HEALTHY VOLUNTEERS	15
Efficacy of an anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis type IIIA mice	15
Table of Contents	15
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource	15
Cover 2 / Ed. Board	15
KINETIC ANALYSIS OF N-DEACETYLASE/N-SULFOTRANSFERASE (NDST1) INHIBITORS USING A FLUOROMETRIC COUPLED ENZYME ASSAY	14
A RABBIT MODEL OF CYSTINOSIS HAS DEPOSITION OF CYSTINE CRYSTALS IN THE CORNEA	14
PREDICTORS OF SURVIVAL IN PRIMARY LACTIC ACIDOSIS	14
GENE THERAPY FOR PROPIONIC ACIDEMIA	14
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	14
ARIMOCLOMOL IN ADULTS WITH NPC IN A REAL-WORLD SETTING DATA FROM AN EXPANDED ACCESS PROGRAM IN THE USA	13
EFFECT OF CREATINE SUPPLEMENTATION ON AGAT EXPRESSION AND METABOLIC INTERMEDIATES IN GAMT-DEFICIENT MICE	13
METABOLOMIC STUDIES IN CORTICAL BRAIN ORGANOIDS	12
GENE VARIANTS ASSOCIATED WITH THROMBOCYTOPENIA WITH OR WITHOUT GNE MYOPATHY	12
FLAVIN ADENOSINE DINUCLEOTIDE SYNTHASE DEFICIENCY AN ATYPICAL CLINICAL PRESENTATION WITH A PUZZLING BIOCHEMICAL DERANGEMENT	12
HOW FREQUENTLY ARE INDIVIDUALS WITH PROPIONATE PATHWAY DISORDERS HOSPITALIZED?	12
GYNECOLOGIC ISSUES IN METHYLMALONIC ACIDEMIA (MMA), COBALAMIN DISORDERS AND PROPIONIC ACIDEMIA	12

SUCCESSFUL CARDIAC TRANSPLANTATION AND LONG-TERM FOLLOW-UP IN -ASSOCIATED DILATED CARDIOMYOPATHY WITH ATAXIA	12
MOLYBDENUM COFACTOR DEFICIENCY (MOCD): THE ROLE OF SEQUENCING AND BIOCHEMICAL TESTING	12
COMPARISON OF PHENYLALANINE ABSORPTION IN HEALTHY VOLUNTEERS AND PKU PATIENTS IN THE SYNPHENY-1 STUDY	12
USE OF CRISPR TO VALIDATE CANDIDATE MUTATION IN OVINE GM1 GANGLIOSIDOSIS VARIANT	12
IMPACT OF HYPERAMMONEMIA IN UREA CYCLE DISORDERS (UCD) ON DOWNSTREAM MARKERS OF IMPAIRED NEUROCOGNITION: USING NONINVASIVE IMAGING TO DELINEATE STRUCTURAL, METABOLIC AND FUNCTIONAL CONSEQUENCES	11
Pregnancy with Morquio syndrome type A: What are patients' perspectives and has enzyme replacement therapy (ERT) changed them?	11
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	11
Prenatal diagnosis of Pompe disease	11
IS IT TIME TO MOVE BEYOND ACYLCARNITINE PROFILES? LESSONS FROM THE CLINICAL APPLICATION OF A HIGH-DEFINITION LC-MS/MS ACYLCARNITINE METHOD	11
Long-term intravenous galsulfase in Maroteaux-Lamy syndrome further reduces urine glycosaminoglycans (GAG) after hematopoietic stem cell transplantation and improves cardiac function and endurance	11
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation	10
Influence of lysosomal diseases on reproductive parameters of animal models	10
An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease	10
Project Searchlight Gaucher study design: Real-world evaluation and validation of a rare disease algorithm to identify persons at risk of Gaucher disease using data from electronic health records in t	10
GOAL-GD: A smartphone application to enhance patient engagement in a real-world study of treatment switching in patients with Gaucher disease type 1	10
The Boston Children's Hospital (BCH) four year experience with the Massachusetts State Newborn Screening (NBS) pilot program for mucopolysaccharidosis type I (MPS I), Pompe disease, and X-linked adren	10
Initiation of pharmacologic chaperone therapy for Fabry disease in the Canadian Fabry Disease Initiative (CFDI) registry is not associated with reduction of kidney function	10
Disease phenotypes present in CLN7 patient fibroblasts are improved following treatment to reduce glycosphingolipid synthesis	10
Version control and crosswalk in cognitive assessment: Transitioning from the fourth to fifth edition of the Wechsler Intelligence Scale for Children (WISC) in children with NCL disorders/Batten disea	10
Making the case for global carrier screening for Tay-Sachs disease	10
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center	10
Neurodegenerative role of lysosomal cathepsin B in MPS IIIC	10
The diagnostic challenge of mild citrulline elevation at newborn screening	10
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort	10
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	10
Table of Contents	10
A Hunter syndrome sibling pair: Differential effects of age at initiation of enzyme replacement therapy on growth, orthopedic disease, and daily living skills	10
Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis	10
DNL310 normalizes primary storage substrates and biomarkers of lysosomal dysfunction in neuronopathic MPS II: 2-year interim analysis of a phase 1/2 study	9
P.44 Patient and provider virtual summit: the current state of medium chain acyl-CoA dehydrogenase deficiency management	9
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis	9
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	9
P.47 Association between cobalamin deficiency detected through newborn screening and creatine levels in mothers and their offspring in the neonatal period	9
P.54 Blenderized tube feeding in metabolic patients: survey results from metabolic dietitians in the U.S.	9
P.9 Findings of a patient registry for MSUD using coordination of rare diseases at Sanford (CoRDS)	9
O.2 Protein requirements in phenylketonuria adults and bioavailability of glycomacropeptide compared to an L-amino acid based product	9
Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa	9
P.10 Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU)	9
P.32 Introducing food allergens to infants with amino acid disorders using a clinic guide and supportive patient educational materials	9
P.14 APHENITY extension study dietary phe tolerance assessment design using 3-day diet records: an interim report	9
P.20 Utilizing the BioPKU database to personalize nutrition and treatment interventions for patients with PKU	9
An evidence-based individual treatment trial with adalimumab in a patient with Morquio syndrome	8
Design of PROMs and PREMs questionnaire for ASMD care	8
Long-term follow-up in an adult patient with Schindler disease	8
Retrospective chart review of Gaucher disease type 1 patients homozygous for the p.N409S variant	8
The synergy of multiplex testing to screen for lysosomal disorders (LD)	8
Bone mineral density improvements in velaglucerase alfa-treated patients with Gaucher disease: Real-world data from the Gaucher Outcome Survey (GOS)	8
Marklald: Plasma biomarkers as key indicators for monitoring patients with lysosomal acid lipase deficiency treated with sebelipase alfa. Preliminary findings from a multicentre cohort study in Spain	8
Newborn screening for Krabbe disease in Illinois: A single center's experience	8
Predictors of functional gait from initial assessment in a cohort of attenuated Morquio syndrome patients at a specialist tertiary centre	8
Exploring the optimal timing of treatment for attenuated MPS II: Learning from a late-diagnosed symptomatic adult vs asymptomatic infant identified by newborn screening	8
Evaluation of the correlation coefficient to determine the severity of bone marrow infiltration between bone marrow burden, fat fraction and Lyso GL1 in adult patients with Gaucher disease. A Study fr	8
Insights from the Czech MPS IVA patient cohort, effect of therapy	8
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms	8
Understanding the role of neutrophil extracellular traps in vascular complications of lysosomal disorders	8
Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adul	7
Algorithmic case finding approaches for Gaucher disease type 1 in primary care records	7
Cardiovascular structure and function in MPS VII subjects	7
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	7
Toward newborn screening of cystinosis	7
Parent-reported disease burden in Krabbe disease: Evaluating outcomes of hematopoietic stem cell transplant	7
Exploring the clinical impacts of genetic variants of unknown significance in Fabry disease	7
WORLDSymposium™ 2025 Program	7
Fabry disease biomarker evaluation during a five-year gene therapy clinical trial	7
Pregnenolone emerges as a hit compound with therapeutic potential in CLN2 disease following a zebrafish-based high-throughput drug screening	7
Immune modulation for AAV-9 gene therapy by oral administration of peptides for GALNS enables the vector re-administration in MPS IVA	7
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	7
Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease	7
Clinical variability in Gaucher disease associated with the c.1880 T > G (D409H) variant in GBA1	7
Evaluation of potential drug development and therapeutic approaches for mucopolysaccharidosis type II	7
Five years of newborn screening for mucopolysaccharidosis type I in Virginia	7
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	7
Prodromal parkinsonian features in carriers of variants in GBA1: Who is at risk for developing Sidransky syndrome?	7
Cover 2 / Ed. Board	7
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	7
Kidney organoids from patient-derived induced pluripotent stem cells for the investigation of Fabry nephropathy	7
Investigating mitochondria-lysosome cross-talk in Gaucher disease cells	7
Individual and health-care system socioeconomic impact of lysosomal disorders in Spain	7
Hematopoietic stem cell transplantation for lysosomal disorders: Unraveling the mechanisms for CNS repopulation	7
Could the microbiota contribute to the symptomatology of Sanfilippo syndrome? A report in two affected siblings	7

Utility of signature specific biomarkers for the mucopolysaccharidoses: 8 years experience in the diagnostic laboratory	7
The bioactive potential of Rosa damascena mill: Preventive chelating effects and the role of ecosystem dynamics in inherited diseases	7
Hematopoietic stem cell gene therapy for mucopolysaccharidosis type I—Hurler syndrome (OTL-203): Interim skeletal, neurological and systemic outcomes from a phase I/II study	7
Genome-edited autologous stem cell transplantation with enhanced brain conditioning to correct progranulin deficiency	7
Biomarker potential of allele-specific extracellular vesicles in Gaucher disease	7
Inflammation and impaired autophagy in Gaucher disease type 1 infants diagnosed by newborn screening	6
Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine	6
Severe leukopenia and thrombocytopenia in an acid sphingomyelinase deficiency patient with dengue virus infection–Case report	6
Functional panorama and evolution of Pompe disease patients in Latin America	6
Improved growth in children with Fabry disease during treatment with agalsidase beta: A Fabry Registry analysis	6
Long-term impact of pabinafusp alfa on disease burden in Hunter syndrome: A 4-year follow-up of patient-reported outcomes	6
Screenplus parental perspectives on universal and consented newborn screening based on treatability	6
A cyclic oligosaccharide structure as a novel therapeutic strategy for Krabbe disease	6
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	6
The impact of a community: Engaging with the FDA and other stakeholders	6
Clinical significance of complex intronic haplotype in Fabry disease screening cohort: A prospective cohort study in Korean patients	6
Massively parallel biochemical annotation of VOUS for lysosomal disorders	6
Phase 1/2 dose-finding study to evaluate systemic administration of an AAV9-based gene therapy for peripheral manifestation of Gaucher disease: The PROCEED study	6
National peer-review of the transition process in lysosomal disease centers in England	6
Inconclusive urine glycosaminoglycan results in MPS I and MPS II newborn screening cases using both methanolysis and endogenous NRE GAG methods	6
Analysis of juvenile vs. adult-onset Pompe disease: Insights from a multinational registry	6
Campsiite® phase I/II/III: an interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)	6
Age-dependent reference intervals for cerebrospinal fluid (CSF) and urine heparan sulfate (HS) and dermatan sulfate (DS) and CSF gangliosides	6
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	6
Inconclusive endogenous nonreducing end GAG analysis in an infant detected on NBS for MPS I	6
Porous microcarriers for sustained delivery of mRNA-lipid nanoparticles to treat joint disease in the mucopolysaccharidoses	6
Acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C: Cytologic features of bone marrow and peripheral blood smears can guide the diagnosis	6
Simulation-facilitated training for parents of patients with mucopolysaccharidosis increases parental self-efficacy and reduces anxiety and stress: Results from a mixed-method psychological study	6
Inflammatory biomarkers underlying sex differences in Fabry disease related cardiomyopathy	6
Neurocognitive development and adaptive behavior in mucolipidosis type II: A retrospective analysis of 11 patients	5
Validation of quality-of-life states in late-infantile and early-juvenile metachromatic leukodystrophy	5
Safety and pharmacokinetics of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 and type 3: The ELIKIDS study	5
A natural history study of Sanfilippo syndrome type D (MPS type IIID)	5
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan	5
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry	5
Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2/ mouse model	5
Brain proton MR spectroscopy measurements in CLN3 disease	5
A Caenorhabditis elegans model of adenylosuccinate lyase deficiency reveals neuromuscular and reproductive phenotypes of distinct etiology	5
Timing is everything in Hunter syndrome: Differential clinical courses associated with age at initiation of therapy in a sibling pair	5
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease	5
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	5
Differences in initiation of enzyme replacement therapy across the United Kingdom	5
Symptoms of Fabry disease in adolescents	5
Fibrillin-1 and asprosin, novel players in metabolic syndrome	5
Pharmacokinetics and biomarker responses in patients with Gaucher disease type 3 or -associated Parkinson's disease treated with venglustat	5
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders	5
Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta	5
Functional modeling of human lysosomal acid alpha-glucosidase variants	5
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice	5
Assessing bone mineral density in Fabry disease	5
Trial in progress: An open-label study (AT1001–025 RENEW) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable GLA variants and severe renal impairment	5
Secondary accumulation of lyso-platelet activating factors in lysosomal diseases	5
The lengthy and burdensome journey to diagnosis for female patients with Fabry disease	5
Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil	5
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey	5
Why cystic fibrosis newborn screening programs have failed to meet original expectations… thus far	5
The landscape of CRISPR/Cas9 for inborn errors of metabolism	5
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease	5
In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease	5
PKAN pathogenesis and treatment	4
Metabolic aspects of glycogenolysis with special attention to McArdle disease	4
AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study	4
Clinical utility of integrated cytogenetic methodologies in the identification and characterization of genetic aberrations in B-lymphoblastic leukemia with hypodiploidy	4
Optical genome mapping enables constitutional chromosomal aberration detection: proof-of-principle study with 85 samples	4
A combination of long-range PCR and long-read sequencing resolves common, high-risk dark and camouflaged carrier screening genes	4
The impact of vitamin D in patients with lysosomal diseases on ERT	4
Patient-reported experiences with Fabry disease monitoring and disease burden in the real-world setting: Results from a double-blind, cross-sectional survey	4
Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease	4
Bone marrow adipocytes alteration in an model of Gaucher disease	4
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome	4
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria	4
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1	4
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy	4
Beyond improving knowledge and competence: How continuing medical education closes gaps in the management of late-onset Pompe disease	4
Performance of in silico splice tools used at the GGC for decision-making in molecular diagnosis	4
NeuroSCORE: A genome-wide OMICs based model to identify disease associated genes of the central nervous system	4
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework	4
Collaboration between patient advocacy and industry to create a master protocol to investigate the novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C,	4
WORLDSymposium™ 2023 Abstract Keyword Index	4
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers	4
Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB)	4
Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses	4
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses	4
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset	4
Identification of the first genetic variants underlying metachromatic leukodystrophy in the Moroccan population by biochemical analyses and NGS-based genetic screening	4
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	4
Concurrent inversion(3)(q21q26.2) and translocation(3;21)(q26.2; q22) in the acceleration phase of chronic myeloid leukemia	4
Triploid dizygotic twin pregnancy: elucidating meiotic error using STR marker and chromosomal SNP microarray data	4
Improving and accelerating clinical molecular diagnosis of severe hemophilia A with optical genome mapping technology	4
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report	4
Identification of inflammatory cells in dilated ascending aortas of IDUA-deficient (MPS I) mice	4
models for the assessment of glycogen accumulation and depletion in various tissues	4
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial	4
Molecules, metabolism and genetics	4
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses	4