Molecular Genetics and Metabolism

Papers
(The TQCC of Molecular Genetics and Metabolism is 0. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Fabry cardiomyopathy in Finland: A Fabry registry study69
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels69
First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study67
Cover 2 / Ed. Board58
Charles Scriver: Epitome of the physician scientist40
Long-term follow-up in an adult patient with Schindler disease39
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice39
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C38
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria38
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center36
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE32
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease30
Table of Contents27
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY27
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease27
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene25
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease24
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use24
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology24
Analysis of pooled data from clinical trials in treatment-naïve patients with late-onset Pompe disease (LOPD) to inform on the efficacy of avalglucosidase alfa24
When simultaneous detection becomes possible: A new screening method for lysosomal diseases24
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease24
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing23
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease23
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease22
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening22
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data22
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency21
Building a better translational model of neuropathic Gaucher disease21
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis21
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit21
Neuroradiological evaluation of Fabry disease patients in follow-up in a reference center before ERT20
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase20
Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience20
Impact of ASGR1 on the hepatic expression and localization of NEU119
Single centre review and analysis of enzyme replacement therapy infusion associated reactions in patients with lysosomal disorders19
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases19
Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis19
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis19
Brain proton MR spectroscopy measurements in CLN3 disease18
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria18
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis18
Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU18
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening18
P.10 Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU)18
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey18
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease18
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation18
Corrigendum to “Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data” [Molecular Genetics and Metabolism 141, Issue 3 (2024) 108118
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection17
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling17
In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease17
Oxidative metabolism induces differential miRNA expression in mitochondrial disease LCLS17
Persistently elevated alloisoleucine in a patient without maple syrup urine disease17
Molecular Trojan Horses for treating lysosomal storage diseases17
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)16
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach16
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)16
Phase 1/2 dose-finding study to evaluate systemic administration of an AAV9-based gene therapy for peripheral manifestation of Gaucher disease: The PROCEED study16
Cover 2 / Ed. Board16
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis16
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial16
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease16
Cardiovascular structure and function in MPS VII subjects15
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis15
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 fr15
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review14
Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome14
Best practice recommendations for the management of anxiety during the pegvaliase journey14
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes14
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation13
Genetics-based infusion centers: Report of 16 years experience of one Brazilian center13
It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule13
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II13
Cover 2 / Ed. Board13
WORLDSymposium™ 2022 Introduction13
Novel AAV gene therapy produces beta-glucocerebrosidase with high levels of M6P to enable cellular uptake and cross-correction in the CNS as a potential treatment for type 2/3 Gaucher disease13
Membrane-tethered form of NAGLU used to elucidate pathogenesis of heparan sulfate in MPS IIIB mice12
Usability study of a new bottle for cystaran eye drops in cystinosis subjects currently on eyedrop therapy for corneal cystine crystal accumulation12
High-risk population screening for the mucopolysaccharidoses (MPS)12
Pharmacological chaperones as an alternative to increase GALNS activity in mucopolysaccharidosis type IVA12
Systematic literature review on the burden of illness, health-related quality of life, and treatment options in pediatric and adult patients with alpha mannosidosis12
Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha--acetylglucosaminidase (Sanfilippo syndrome type B)11
Generation of isogenic iPSC lines to investigate the pathogenesis of -associated Parkinson's disease11
Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy11
Somatic outcomes in a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II11
Psychosine predicts age of onset in babies with Krabbe disease11
Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice11
Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches11
Comparing treatment options for Fabry disease: Feasibility assessment for network meta-analysis (NMA)11
A Suspicion Index Tool (SIT) to aid diagnosis of ASMD disease: Design and first results11
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains11
Studying the role of autophagy in Krabbe disease11
Assessing the impact of pain on health-related quality of life (HRQoL) in patients with Fabry disease11
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up10
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa10
THE JUMP (JOURNEY TO UNDERSTAND MMA AND PA) STUDY: A NATURAL HISTORY STUDY CONDUCTED BY HEMOSHEAR AND ALLSTRIPES10
CK-MM as a second-tier test for Pompe disease newborn screening10
First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS10
DNL310 phase 1/2 case study demonstrates properties of raw, standard and growth scale scores for adaptive behavior scales10
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 5132 infusions10
ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES10
Niemann-Pick disease type C: A description of patients followed at a reference center in São Paulo - a retrospective study10
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction10
Neurodevelopmental outcomes of hematopoietic stem cell transplantation for infantile Krabbe disease diagnosed through newborn screening10
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 110
RECAPITULATION OF METABOLIC DEFECTS IN MODELS OF THE UREA CYCLE DISORDERS CPS1, OTC, ASS1, ASL, AND ARG1 USING PATIENT-DERIVED PRIMARY HEPATOCYTES10
Tenascin C down regulation in a neuron model of Fabry disease10
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey10
Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires9
A rabbit model of cystinosis has deposition of cystine crystals in the cornea9
From mouse to sheep: Generating a sheep model and developing a gene therapy for sialidosis9
MT-TI Gitelman-like syndrome presentation in an adult with muscle fasciculations and normal magnesium levels9
Variable clinical and brain radiological manifestations in four patients with beta mannosidosis9
Rare disorders, big challenges: Special issue on congenital disorders of glycosylation9
Long-term hematopoietic stem cell lentiviral gene therapy rescues neuromuscular manifestations in preclinical study of Pompe disease mice9
A targeted literature review on the manifestations and clinical burden in patients with Fabry disease9
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases9
Development of a novel MSMS based enzyme assay for ECHS1 deficiency and blood based biomarkers for early detection of critically ill infants9
Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa9
A phase I/II clinical study of intravenous administration of JR-171, a blood-brain barrier-crossing enzyme, in mucopolysaccharidosis type I: An update9
Motor deficits in homozygous 6 mice as model of Pompe disease9
Blood sulfatides as disease biomarker for metachromatic leukodystrophy: Disease characterization, early diagnosis, and response to treatment9
Development of a suspicion index tool to aid diagnosis of ASMD disease9
The role of functional assays and multiomics for diagnosis and discovery in methylmalonic acidemia9
Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada9
Abstracts for Short Oral Presentations8
REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?8
Systematic literature review of the clinical effectiveness, safety, quality of life, epidemiology and economic burden associated with cystinosis8
FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years8
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency8
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria8
Indirect treatment comparisons of pegunigalsidase alfa vs other therapies for left ventricular mass index in Fabry disease8
P.25 Diet, growth, body composition and resting energy expenditure in propionic acidemia8
THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDER8
A Phase 1/2 first-in-human study to evaluate the safety, tolerability, and pharmacokinetics of UX053 in patients with glycogen storage disease type III8
Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening8
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes8
The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability8
Corrigendum to eP296-The yield of thorough record review in the Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page S187, https://doi.org/10.1016/S1096-7192(21)00378-48
ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS8
RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)8
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency8
Changes in CSF GAG after intravenous enzyme replacement therapy8
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing8
DESIGN OF A GLOBAL, MULTICENTER STUDY TO ASSESS MATERNAL, FETAL, AND INFANT OUTCOMES OF PEGVALIASE EXPOSURE DURING PREGNANCY AND BREASTFEEDING8
Sialic acid related disorders diagnosis: The experience of the first Moroccan reference center of inherited metabolic diseases7
Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II7
Industry working with rare disease patient advocacy organizations to further the awareness of lentiviral gene therapy clinical studies for Fabry disease and Gaucher disease type 17
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores7
Molecular mechanism of resveratrol-induced autophagy in mouse model of Sanfilippo syndrome type IIIB7
An innovative gene therapy approach to produce novel GALC variant with enhanced protein stability and enzyme activity with high levels of mannose 6-phosphate for Krabbe disease7
Pilot study of novel optokinetic nystagmus-based visual acuity test in children with CLN2 disease7
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data7
Enzyme replacement therapy with a blood brain barrier-penetrating antibody-fused alpha-L-iduronidase prevents bone deformities in a mouse model of mucopolysaccharidosis type I7
Evaluating the performance of 16 in silico predictors on 22 lysosomal diseases7
Cardiac phenotype in Hunter syndrome widening the spectrum7
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient7
The GBA-370Rec Parkinson's disease risk haplotype harbors a potentially pathogenic variant in the mitochondrial gene SLC25A447
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses7
Anti-AAV6 antibody assay for patient enrollment supporting ST-920 phase 1/2 study for Fabry disease7
ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY7
Transient depletion of pre-existing antibodies for efficient AAV gene delivery7
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs7
Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants7
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency7
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)7
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake7
Genome editing in mucopolysaccharidosis type IVA fibroblasts using CRISPR/Cas97
PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA7
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice7
WORLDSymposium™ 2024 Introduction6
Systematic literature review on the epidemiology, diagnosis, and natural history of alpha mannosidosis6
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations6
Specific medical simulation trainings for parents of MPS patients: An innovative approach and its psychological benefits6
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices6
Spot the stop: A multi-channel campaign to improve early diagnosis of Tay-Sachs disease among healthcare professionals6
Residual galactosylceramidase activity correlates with psychosine levels in GALC missense variants cell model of Krabbe disease6
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy6
THE BIOCHEMICAL PROFILE AND DIETARY MANAGEMENT IN S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY6
AMETHIST: Baseline characteristics from a phase 3 trial of venglustat, a novel brain-penetrant glucosylceramide synthase inhibitor, in GM2-gangliosidoses and related diseases6
Take him home and love him: The experiences of families with Hunter syndrome at home.6
Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome6
Short-term daily treatment of MPS IIIA mice with rosmarinic acid is neuroprotective6
Successful orthotopic heart transplantation in CPTII deficiency6
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis6
Hydrotherapy as a therapeutic modality for treating pain and improving mobility in adults with mucopolysaccharidosis type II6
CLN2 disease resulting from a novel homozygous deep intronic splice variant in discovered using long-read sequencing6
Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia6
Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal6
Editorial Board6
Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study6
A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2 – A clinical update from the PROVIDE trial6
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A56
Long-term outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation6
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I6
Predictive model for estimating the risk of bone mineral loss in Gaucher disease5
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA5
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening5
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models5
Bridging the gap in access to filter paper monitoring in patients with phenylketonuria – a Medical Nutrition Therapy for Prevention (MNT4P) program initiative5
Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies5
Identification of cathepsin D as a potential biomarker of CLN5 function in an early stage potency assay5
Table of Contents5
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease5
Pediatric experience of Fabry patients since the advent of ERT5
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial5
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 35
Nutritional management in adults with glycogen storage disease type Ia (GSDIa) enrolled in a phase 1/2 clinical trial of an AAV8-mediated liver-directed gene therapy5
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia5
At a glance: The largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years5
Neurocognitive outcome in mucopolysaccharidosis type 1 (Hurler phenotype) post HSCT5
Treatment of cardiac, neurologic, and skeletal manifestations of murine MPS I with AAV9-IDUA: Efficacy study of vector dose and route of administration5
Correlation between bone manifestations and variants of the GBA gene in Gaucher disease: A systematic review5
Table of Contents5
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry5
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases5
Phenylalanine hydroxylase (PAH) deficiency in old order Amish communities: from genotype to clinical management.5
Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I5
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease5
Medical information consumption and sharing practices in lysosomal diseases: A clinician perspective5
P.45 Use of soluble fiber to mitigate gastrointestinal side effects of triheptanoin: a case report5
Incidental diagnosis of lysosomal diseases by expanded carrier screening and direct-to-consumer genetic testing5
Long term follow up of lymphadenopathy in Egyptian Gaucher disease children and adolescents5
Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ)5
Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease4
Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience4
Applying phenotypic evidence to support the molecular diagnosis of inborn errors of metabolism (IEMS) across diverse clinical contexts: The ClinGen IEM variant curation expert panel (VCEP) experience4
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery4
Long term enzyme replacement therapy after hematopoietic stem cell transplant results in immune tolerance and improved biochemical outcomes4
Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease4
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis4
Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy4
Efficacy of miglustat treatment in a patient with associated action myoclonus renal failure syndrome4
Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD4
Emotional stroop task reveals altered neural activation patterns in early-treated phenylketonuria4
Editorial Board4
PS Gene-editing system corrects the CNS with blood-brain barrier penetrant ApoE-enzymes4
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases4
Enzyme replacement therapy (ERT) combined with transient low-dose methotrexate (TLD-MTX) results in age- and disease-dependent immune profile changes in infantile- vs. late-onset Pompe disease patient4
Patient with GSD-III: candidate for liver transplantation?4
Real-world experiences with taliglucerase alfa home infusions for patients with Gaucher disease: A global cohort study4
Repeated-dose oral -acetylcysteine in Gaucher disease: Pharmacokinetics summary4
Different monitoring patterns in treated and untreated patients with Fabry disease: Analysis of a United States claims database4
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity4
Early potentially irreversible cardiac damage in Fabry disease precedes Gb3 inclusion body formation4
Remote technologies for monitoring gait changes due to neurodegenerative diseases in children: Evaluation, issues, and future promise4
Metabolic providers in crisis – Burning out on the road to burnout?4
The model of citrin deficiency: Adopting a new approach to rare diseases4
Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns4
0.071732997894287