Molecular Genetics and Metabolism

Article	Citations
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	115
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	78
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	75
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	74
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	68
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)	68
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	49
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	45
Cardiovascular structure and function in MPS VII subjects	44
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	43
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	37
Cover 2 / Ed. Board	35
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	34
Cover 2 / Ed. Board	32
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	30
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	30
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	28
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases	28
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis	27
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease	27
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	26
Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU	26
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	26
Impact of ASGR1 on the hepatic expression and localization of NEU1	25
Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience	24

Charles Scriver: Epitome of the physician scientist	24
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase	24
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	24
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 study	23
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	23
Building a better translational model of neuropathic Gaucher disease	23
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit	23
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease	22
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	22
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	21
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	21
Table of Contents	21
P.10 Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU)	21
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling	20
Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis	20
Oxidative metabolism induces differential miRNA expression in mitochondrial disease LCLS	20
Single centre review and analysis of enzyme replacement therapy infusion associated reactions in patients with lysosomal disorders	20
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	20
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis	20
Persistently elevated alloisoleucine in a patient without maple syrup urine disease	19
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation	18
Preclinical evaluation of a durable, tissue-targeted gene therapy for Pompe disease demonstrates superior efficacy over standard ERT	18
Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review	18
Immunomodulatory and metabolic role of D vitamin in lysosomal diseases	18
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report	18
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) 1081	18
Anti-transferrin receptor 1-targeted AAV9 therapy prevents CNS and visceral pathologies in acid sphingomyelinase deficiency	17
Long-term safety and efficacy of pegunigalsidase alfa in patients with Fabry disease: Results from the phase III BRILLIANCE extension study	17
Induction of immune tolerance in a patient with type 3 Gaucher disease	17
National insights into value-based care for Gaucher disease: Findings from the Brazilian JAV-RARAS project	17
Addressing cerebral edema after resolution of hyperleucinemia via nutrition management in a classical MSUD patient: A case study	16
Dietary protein intake variability in individuals with phenylketonuria: Analysis of baseline PRISM data	16
A decision analysis framework for individualized immunomodulatory therapy in MPS: Early clinical insights	16
DYNE-401 demonstrates potential to address Pompe disease with low and infrequent dosing	16
Cover 2 / Ed. Board	16
Improved outcomes in infantile-onset Pompe disease through early enzyme replacement therapy enabled by newborn screening: Insights from a multisite US cohort	16
Presymptomatic and symptomatic disease stage-dependent outcomes of cerliponase alfa treatment in siblings with CLN2 disease	16
Best practice recommendations for the management of anxiety during the pegvaliase journey	16
Five-year follow-up after gene therapy with ABO-101 in five children with Sanfilippo syndrome type B	16
Brain proton MR spectroscopy measurements in CLN3 disease	15
Dissecting mitochondrial trifunctional protein functions: Intact α-TFP restores cardiolipin remodeling in TFP-deficient human cells	15
TPI deficiency: A case report and review of the literature	15
Deep intronic variants as a cause of OTC deficiency	15
PIGL-CDG in a neonate with congenital diaphragmatic hernia: Clinical findings supporting variant specific genotype-phenotype correlations	15
Program for the 2026 SIMD Annual Meeting	15
Molecular Trojan Horses for treating lysosomal storage diseases	14
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	14
First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS	14
Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa−/− Pompe disease mice	14
Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test	14

Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening	14
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey	14
It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule	14
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review	14
Changes in CSF GAG after intravenous enzyme replacement therapy	13
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency	13
Variable clinical and brain radiological manifestations in four patients with beta mannosidosis	13
Abstracts for Short Oral Presentations	13
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency	13
Indirect treatment comparisons of pegunigalsidase alfa vs other therapies for left ventricular mass index in Fabry disease	13
Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada	13
ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS	13
Development of a novel MSMS based enzyme assay for ECHS1 deficiency and blood based biomarkers for early detection of critically ill infants	13
FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years	13
MT-TI Gitelman-like syndrome presentation in an adult with muscle fasciculations and normal magnesium levels	13
A Phase 1/2 first-in-human study to evaluate the safety, tolerability, and pharmacokinetics of UX053 in patients with glycogen storage disease type III	13
The role of functional assays and multiomics for diagnosis and discovery in methylmalonic acidemia	13
Rare disorders, big challenges: Special issue on congenital disorders of glycosylation	12
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing	12
Poster list by author	12
Nutritional monitoring and management post-DTX401 treatment: Initial observations from a phase 3 clinical trial for glycogen storage disease type Ia	12
Generation of isogenic iPSC lines to investigate the pathogenesis of -associated Parkinson's disease	12
Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa	12
REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?	12
Blood sulfatides as disease biomarker for metachromatic leukodystrophy: Disease characterization, early diagnosis, and response to treatment	12
Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib	12
RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)	12
High-risk population screening for the mucopolysaccharidoses (MPS)	12
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa	12
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 DISORDER	12
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults	12
The Executive Function, Attention, and Speed Symptom Inventory (EASSI): A new patient-reported outcome measure for individuals with phenylketonuria (PKU)	12
Fueling the goal: Optimizing diet and exercise for a patient with CPTII deficiency	12
Genetics-based infusion centers: Report of 16 years experience of one Brazilian center	12
Evaluating utilization and effectiveness of clinic guide and patient educational materials for introducing food allergens to infants with aminoacidopathies	12
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 disease	11
Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy	11
Systematic literature review on the burden of illness, health-related quality of life, and treatment options in pediatric and adult patients with alpha mannosidosis	11
CK-MM as a second-tier test for Pompe disease newborn screening	11
Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice	11
From mouse to sheep: Generating a sheep model and developing a gene therapy for sialidosis	11
Membrane-tethered form of NAGLU used to elucidate pathogenesis of heparan sulfate in MPS IIIB mice	11
Neurodevelopmental outcomes of hematopoietic stem cell transplantation for infantile Krabbe disease diagnosed through newborn screening	11
Studying the role of autophagy in Krabbe disease	11
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II	11
Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches	10
Somatic outcomes in a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II	10
Assessing the impact of pain on health-related quality of life (HRQoL) in patients with Fabry disease	10
DNL310 phase 1/2 case study demonstrates properties of raw, standard and growth scale scores for adaptive behavior scales	10
P.25 Diet, growth, body composition and resting energy expenditure in propionic acidemia	10
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up	10
Usability study of a new bottle for cystaran eye drops in cystinosis subjects currently on eyedrop therapy for corneal cystine crystal accumulation	10
Motor deficits in homozygous 6 mice as model of Pompe disease	10
Development of a suspicion index tool to aid diagnosis of ASMD disease	10
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey	10
Comparing treatment options for Fabry disease: Feasibility assessment for network meta-analysis (NMA)	10
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 5132 infusions	10
A Suspicion Index Tool (SIT) to aid diagnosis of ASMD disease: Design and first results	10
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction	10
A targeted literature review on the manifestations and clinical burden in patients with Fabry disease	10
Pharmacological chaperones as an alternative to increase GALNS activity in mucopolysaccharidosis type IVA	10
Healthcare resource use for mucopolysaccharidosis type III (MPS III) patients in the United States based on analysis of claims data	9
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract	9
Medications and other recurrent interferences in metabolic data	9
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy	9
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases	9
PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA	9
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3	9
The neuroimaging phenotype of neuronopathic Gaucher disease: Evidence of vascular and inflammatory components of neuronopathic disease?	9
Early multicenter experience with standardized approaches to seizure outcome measurement in pediatric epilepsy trials	9
A girl with NBS-negative, early infantile-onset suspected cobalamin J deficiency	9
Assessment of cognitive functioning using the Vineland Adaptive Behavior Scale in patients with mucopolysaccharidosis type II	9
Recurrent hemophagocytic lymphohistiocytosis in COG deficiency: a case series and systematic review of inflammatory manifestations	9
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA	9
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	9
DESIGN OF A GLOBAL, MULTICENTER STUDY TO ASSESS MATERNAL, FETAL, AND INFANT OUTCOMES OF PEGVALIASE EXPOSURE DURING PREGNANCY AND BREASTFEEDING	9
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes	9
In vitro evaluation of therapeutic beta-glucuronidase enzyme uptake and penetration in articular cartilage	9
Advancing rare disease screening at scale: A cost-effective targeted metabolomics panel for expanded newborn screening of treatable inherited errors of metabolism	9
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1	9

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspec	9
Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study	9
Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review	9
ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY	9
Driving treatment for females with X-linked adrenoleukodystrophy	9
Sepiapterin for the treatment of PKU: FDA approval summary	9
A novel highly sensitive machine learning model for automated measurement of kidney peritubular capillary endothelial cell globotriaosylceramide accumulation	9
Hydrotherapy as a therapeutic modality for treating pain and improving mobility in adults with mucopolysaccharidosis type II	8
Long-term outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation	8
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5	8
Short-term daily treatment of MPS IIIA mice with rosmarinic acid is neuroprotective	8
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice	8
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses	8
Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal	8
Residual galactosylceramidase activity correlates with psychosine levels in GALC missense variants cell model of Krabbe disease	8
Spot the stop: A multi-channel campaign to improve early diagnosis of Tay-Sachs disease among healthcare professionals	8
Specific medical simulation trainings for parents of MPS patients: An innovative approach and its psychological benefits	8
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis	8
WORLDSymposium™ 2024 Introduction	8
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data	8
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I	8
Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome	8
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations	8
A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2 – A clinical update from the PROVIDE trial	8
Sialic acid related disorders diagnosis: The experience of the first Moroccan reference center of inherited metabolic diseases	8
CLN2 disease resulting from a novel homozygous deep intronic splice variant in discovered using long-read sequencing	8
Molecular mechanism of resveratrol-induced autophagy in mouse model of Sanfilippo syndrome type IIIB	8
Predictive model for estimating the risk of bone mineral loss in Gaucher disease	7
Clinical impact of the MAN2B1 c.2248C > T variant in patients with alpha-mannosidosis: Genotype-phenotype insights from the SPARKLE registry	7
Single centre experience on the disease modifying treatment for lysosomal disorders	7
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature	7
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases	7
Systematic literature review on the epidemiology, diagnosis, and natural history of alpha mannosidosis	7
Cardiac phenotype in Hunter syndrome widening the spectrum	7
Anti-AAV6 antibody assay for patient enrollment supporting ST-920 phase 1/2 study for Fabry disease	7
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs	7
Neutralizing antibodies in Fabry disease CRIM-like stratification, immunomodulation, and substrate reduction therapy (SRT)	7
Parents' psychosocial experiences with newborn screening for spinal muscular atrophy	7
The PROCEED study: A phase I/II dose-escalation investigation of systemic AAV9-based gene therapy for peripheral manifestations of Gaucher disease	7
Clinical, epidemiological, diagnostic and therapeutic profile of Fabry disease patients: A study based on the Brazilian national network for rare diseases	7
In memoriam: Stephen G. Kahler, MD	7
Editorial Board	7
AMETHIST: Baseline characteristics from a phase 3 trial of venglustat, a novel brain-penetrant glucosylceramide synthase inhibitor, in GM2-gangliosidoses and related diseases	7
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake	7
Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder	7
Non-invasive assessments of sudomotor dysfunction and autonomic neuropathy in Fabry disease	7
Co-producing UK clinical guidelines for lysosomal disorders: A patient professional partnership	7
Understanding symptoms and impacts in lysosomal diseases: A qualitative literature review and conceptual model	7
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 disease	7
Enzyme replacement therapy with a blood brain barrier-penetrating antibody-fused alpha-L-iduronidase prevents bone deformities in a mouse model of mucopolysaccharidosis type I	7
The origin of abnormal organic acids in HMG-CoA synthase deficiency	7
Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I	7
Enhancing Fabry cascade screening through direct contact of relatives	6
Infantile onset Pompe disease patients switching from weekly alglucosidase to avalglucosidase show improved biomarkers and gross motor skills: A case series	6
Serial brain MRI volumetrics and DTI analysis in atypical CLN2 patients treated with ICV cerliponase alfa	6
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening	6
Citrullinemia type 1 during pregnancy: A case study of nutritional management and supplementation	6
Development of a coping skills program for adolescents with PKU: Initial intervention study results	6
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia	6
Parental carrier screening is the first line approach to lysosomal disorders	6
A pilot study for the characterization of the modified phenotype of Fabry disease in hemizygous males living with classic Fabry disease	6
Consistent dietary intake over time among participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD)	6
Medium branched-chain and dicarboxylic-D-dipeptide conjugates improve bioenergetics and ameliorate higher ROS presence in fibroblasts from CPT2-deficient patients	6
Decoding mitochondrial disease across the lifespan: Comprehensive clinical profiling of a single-center cohort	6
Navigating the real-world challenges of alpha-mannosidosis patients and caregivers: Understanding their journeys during, and after diagnosis	6
A transferrin receptor-targeted α-L-fucosidase, JR-471, reduced core-fucosylated glycoasparagine in the brain and preserved motor function in a murine model of fucosidosis	6
Decoding NEU1 – A molecular switch linking sialidosis, hepatic receptor regulation, and atherosclerosis	6
Breaking barriers in lysosomal disorder screening: A novel simultaneous LC-MS/MS approach for Tay-Sachs, Sandhoff, and GM1 gangliosidosis diseases	6
Prepared and empowered for Pompe emergencies - PE2	6
Biallelic variants in VPS34 are associated with a novel pediatric neurodegenerative disorder in the spectrum of NBIA	6
Considerations for the use of pegvaliase in adolescents with phenylketonuria	6
Clinical outcomes in adult survivors of nonketotic hyperglycinemia: Insights from a patient registry	6
Reframing primary mitochondrial disease as a sterile interferonopathy	5
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency	5
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial	5
Gene expression profiling of human amniotic epithelial cells: Expanding treatment horizons for inherited metabolic disorders	5
Remote technologies for monitoring gait changes due to neurodegenerative diseases in children: Evaluation, issues, and future promise	5
Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy	5
Editorial Board	5
Effectiveness of newborn screening triage model	5
Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease	5
Brain imaging as a prognostic biomarker in urea cycle disorders	5
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy	5
Long term enzyme replacement therapy after hematopoietic stem cell transplant results in immune tolerance and improved biochemical outcomes	5
Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease	5
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases	5
Emotional stroop task reveals altered neural activation patterns in early-treated phenylketonuria	5
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models	5
SSR4-CDG, an ultra-rare X-linked congenital disorder of glycosylation affecting the TRAP complex: Review of 22 affected individuals including the first adult patient	5
CARDIOVASCULAR ISSUES IN ADULT PATIENTS WITH PHENYLKETONURIA: A REVIEW	5
The model of citrin deficiency: Adopting a new approach to rare diseases	5
2024 SIMD Poster Presentation Abstracts	5
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 patient	5
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) experience	5
Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns	5