Molecular Genetics and Metabolism

Article	Citations
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	93
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	81
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	75
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	54
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	53
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)	47
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	43
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	42
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	41
Cardiovascular structure and function in MPS VII subjects	37
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	34
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	33
Cover 2 / Ed. Board	32
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling	31
Oxidative metabolism induces differential miRNA expression in mitochondrial disease LCLS	31
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review	29
Persistently elevated alloisoleucine in a patient without maple syrup urine disease	29
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	29
In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease	28
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	27
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	26
Cover 2 / Ed. Board	25
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	25
TPI deficiency: A case report and review of the literature	25
Molecular Trojan Horses for treating lysosomal storage diseases	25

Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review	25
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	25
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	23
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases	23
Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience	22
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease	22
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels	21
Charles Scriver: Epitome of the physician scientist	21
Brain proton MR spectroscopy measurements in CLN3 disease	21
Neuroradiological evaluation of Fabry disease patients in follow-up in a reference center before ERT	20
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation	20
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening	20
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	20
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	19
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease	19
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	18
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	18
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease	18
Building a better translational model of neuropathic Gaucher disease	18
Table of Contents	17
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	17
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	17
P.10 Latest results from the COMPOSE® Phase 1/2 trial of pegtibatinase, a novel investigational enzyme replacement therapy for classical homocystinuria (HCU)	17
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis	17
Long-term follow-up in an adult patient with Schindler disease	17
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice	17
Single centre review and analysis of enzyme replacement therapy infusion associated reactions in patients with lysosomal disorders	16
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease	16
Best practice recommendations for the management of anxiety during the pegvaliase journey	15
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	15
Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis	15
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C	15
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis	15
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	15
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey	15
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	14
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center	14
Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU	14
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit	14
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase	14
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	14
Cover 2 / Ed. Board	14
Fabry cardiomyopathy in Finland: A Fabry registry study	14
Impact of ASGR1 on the hepatic expression and localization of NEU1	14
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	14
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	13
It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule	13
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	13
Elamipretide in the Management of Barth Syndrome: Current Evidence and a Case Report	13
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	13

First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS	12
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency	12
MT-TI Gitelman-like syndrome presentation in an adult with muscle fasciculations and normal magnesium levels	12
Variable clinical and brain radiological manifestations in four patients with beta mannosidosis	12
ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES	12
RECAPITULATION OF METABOLIC DEFECTS IN MODELS OF THE UREA CYCLE DISORDERS CPS1, OTC, ASS1, ASL, AND ARG1 USING PATIENT-DERIVED PRIMARY HEPATOCYTES	12
Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening	12
Indirect treatment comparisons of pegunigalsidase alfa vs other therapies for left ventricular mass index in Fabry disease	12
Development of a novel MSMS based enzyme assay for ECHS1 deficiency and blood based biomarkers for early detection of critically ill infants	12
FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years	12
THE JUMP (JOURNEY TO UNDERSTAND MMA AND PA) STUDY: A NATURAL HISTORY STUDY CONDUCTED BY HEMOSHEAR AND ALLSTRIPES	12
Changes in CSF GAG after intravenous enzyme replacement therapy	12
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency	12
The role of functional assays and multiomics for diagnosis and discovery in methylmalonic acidemia	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	11
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	11
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	11
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults	11
ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS	11
RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)	11
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing	11
High-risk population screening for the mucopolysaccharidoses (MPS)	11
Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada	11
REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?	11
Rare disorders, big challenges: Special issue on congenital disorders of glycosylation	11
Expansion of genotype/phenotype correlation in an individual with compound heterozygous variants in CYP51A1 and congenital cataract	11
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
Abstracts for Short Oral Presentations	11
From mouse to sheep: Generating a sheep model and developing a gene therapy for sialidosis	10
Tenascin C down regulation in a neuron model of Fabry disease	10
Systematic literature review on the burden of illness, health-related quality of life, and treatment options in pediatric and adult patients with alpha mannosidosis	10
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)00378-4	10
A targeted literature review on the manifestations and clinical burden in patients with Fabry disease	10
CK-MM as a second-tier test for Pompe disease newborn screening	10
Membrane-tethered form of NAGLU used to elucidate pathogenesis of heparan sulfate in MPS IIIB mice	10
DNL310 phase 1/2 case study demonstrates properties of raw, standard and growth scale scores for adaptive behavior scales	10
Long-term hematopoietic stem cell lentiviral gene therapy rescues neuromuscular manifestations in preclinical study of Pompe disease mice	10
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II	10
Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires	9
Blood sulfatides as disease biomarker for metachromatic leukodystrophy: Disease characterization, early diagnosis, and response to treatment	9
Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches	9
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1	9
Pharmacological chaperones as an alternative to increase GALNS activity in mucopolysaccharidosis type IVA	9
Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha--acetylglucosaminidase (Sanfilippo syndrome type B)	9
Niemann-Pick disease type C: A description of patients followed at a reference center in São Paulo - a retrospective study	9
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa	9
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	9
A phase I/II clinical study of intravenous administration of JR-171, a blood-brain barrier-crossing enzyme, in mucopolysaccharidosis type I: An update	9
Generation of isogenic iPSC lines to investigate the pathogenesis of -associated Parkinson's disease	9
A rabbit model of cystinosis has deposition of cystine crystals in the cornea	9
Genetics-based infusion centers: Report of 16 years experience of one Brazilian center	9
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 5132 infusions	9
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey	9
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up	9
Motor deficits in homozygous 6 mice as model of Pompe disease	8
Assessing the impact of pain on health-related quality of life (HRQoL) in patients with Fabry disease	8
Psychosine predicts age of onset in babies with Krabbe disease	8
Comparing treatment options for Fabry disease: Feasibility assessment for network meta-analysis (NMA)	8
Development of a suspicion index tool to aid diagnosis of ASMD disease	8
Systematic literature review of the clinical effectiveness, safety, quality of life, epidemiology and economic burden associated with cystinosis	8
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia	8
DESIGN OF A GLOBAL, MULTICENTER STUDY TO ASSESS MATERNAL, FETAL, AND INFANT OUTCOMES OF PEGVALIASE EXPOSURE DURING PREGNANCY AND BREASTFEEDING	8
Novel murine model provides insights into early-onset of kidney disease in glycogen storage disease type Ib	8
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency	8
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction	8
Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice	8
P.25 Diet, growth, body composition and resting energy expenditure in propionic acidemia	8
Studying the role of autophagy in Krabbe disease	8
Somatic outcomes in a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II	8
ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY	8
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial	8
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes	8
Neurodevelopmental outcomes of hematopoietic stem cell transplantation for infantile Krabbe disease diagnosed through newborn screening	8
Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy	8
WORLDSymposium™ 2022 Introduction	8
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains	8
Usability study of a new bottle for cystaran eye drops in cystinosis subjects currently on eyedrop therapy for corneal cystine crystal accumulation	8
A Suspicion Index Tool (SIT) to aid diagnosis of ASMD disease: Design and first results	8
PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA	8
Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease	8

Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal	7
Predictive model for estimating the risk of bone mineral loss in Gaucher disease	7
Hydrotherapy as a therapeutic modality for treating pain and improving mobility in adults with mucopolysaccharidosis type II	7
Long-term outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation	7
Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder	7
Spot the stop: A multi-channel campaign to improve early diagnosis of Tay-Sachs disease among healthcare professionals	7
THE BIOCHEMICAL PROFILE AND DIETARY MANAGEMENT IN S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	7
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	7
Genome editing in mucopolysaccharidosis type IVA fibroblasts using CRISPR/Cas9	7
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations	7
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5	7
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3	7
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening	7
Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome	7
Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants	7
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA	7
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I	7
Sialic acid related disorders diagnosis: The experience of the first Moroccan reference center of inherited metabolic diseases	7
Specific medical simulation trainings for parents of MPS patients: An innovative approach and its psychological benefits	7
Residual galactosylceramidase activity correlates with psychosine levels in GALC missense variants cell model of Krabbe disease	7
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy	7
The origin of abnormal organic acids in HMG-CoA synthase deficiency	7
Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study	7
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature	7
Short-term daily treatment of MPS IIIA mice with rosmarinic acid is neuroprotective	7
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis	7
Evaluating the performance of 16 in silico predictors on 22 lysosomal diseases	6
Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia	6
Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II	6
Molecular mechanism of resveratrol-induced autophagy in mouse model of Sanfilippo syndrome type IIIB	6
Systematic literature review on the epidemiology, diagnosis, and natural history of alpha mannosidosis	6
Editorial Board	6
Take him home and love him: The experiences of families with Hunter syndrome at home.	6
Phenylalanine hydroxylase (PAH) deficiency in old order Amish communities: from genotype to clinical management.	6
CLN2 disease resulting from a novel homozygous deep intronic splice variant in discovered using long-read sequencing	6
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice	6
Bridging the gap in access to filter paper monitoring in patients with phenylketonuria – a Medical Nutrition Therapy for Prevention (MNT4P) program initiative	6
AMETHIST: Baseline characteristics from a phase 3 trial of venglustat, a novel brain-penetrant glucosylceramide synthase inhibitor, in GM2-gangliosidoses and related diseases	6
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	6
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake	6
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores	6
Anti-AAV6 antibody assay for patient enrollment supporting ST-920 phase 1/2 study for Fabry disease	6
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 therapy	6
Pilot study of novel optokinetic nystagmus-based visual acuity test in children with CLN2 disease	6
The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability	6
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 1	6
WORLDSymposium™ 2024 Introduction	6
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs	6
Transient depletion of pre-existing antibodies for efficient AAV gene delivery	6
Cardiac phenotype in Hunter syndrome widening the spectrum	6
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	6
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data	6
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses	6
Reframing primary mitochondrial disease as a sterile interferonopathy	5
Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I	5
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)	5
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change ana	5
PS Gene-editing system corrects the CNS with blood-brain barrier penetrant ApoE-enzymes	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
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
NEGATIVE SCREENING RESULTS FOR METABOLIC ABNORMALITIES IN A COHORT OF PATIENTS WITH HYPERMOBILITY	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
RETROSPECTIVE STUDY OF THE THE NATURAL HISTORY AND DISEASE COURSE IN 46 PATIENTS WITH PROPIONIC ACIDURIA CAUSED BY PROPIONYL-COA CARBOXYLASE PCCA AND PCCB MUTATIONS	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
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases	5
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases	5
Autosomal recessive BLOC1S1 variants cause a hypomyelinating leukodystrophy with epileptic encephalopathy	5
Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia	5
Early potentially irreversible cardiac damage in Fabry disease precedes Gb3 inclusion body formation	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
Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns	5
Editorial Board	5
Effectiveness of newborn screening triage model	5
BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM	5
Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ)	5
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models	5
In memoriam: Stephen G. Kahler, MD	5
CARDIOVASCULAR ISSUES IN ADULT PATIENTS WITH PHENYLKETONURIA: A REVIEW	5
Gene expression profiling of human amniotic epithelial cells: Expanding treatment horizons for inherited metabolic disorders	5
2024 SIMD Poster Presentation Abstracts	5
Long term enzyme replacement therapy after hematopoietic stem cell transplant results in immune tolerance and improved biochemical outcomes	5
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases	5
The model of citrin deficiency: Adopting a new approach to rare diseases	5
Emotional stroop task reveals altered neural activation patterns in early-treated phenylketonuria	5
THE RELATIONSHIP BETWEEN NEUROCOGNITION AND WHITE MATTER INTEGRITY IN ADULTS WITH EARLY-TREATED PHENYLKETONURIA AS EVIDENCED USING DIFFUSION KURTOSIS IMAGING (DKI)	5
A NEW CASE OF (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS	5
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry	5
Audiology assessment of participants in CAMPSIITE™, a phase I/II/III study of RGX-121 in neuronopathic MPS II	4
Identification of cathepsin D as a potential biomarker of CLN5 function in an early stage potency assay	4
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease	4
Neurocognitive outcome in mucopolysaccharidosis type 1 (Hurler phenotype) post HSCT	4
Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)	4
Treatment of cardiac, neurologic, and skeletal manifestations of murine MPS I with AAV9-IDUA: Efficacy study of vector dose and route of administration	4
Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD	4