Molecular Genetics and Metabolism

Article	Citations
Genetic screening of lysosomal disorders: An account of five years' experience with NGS-based resequencing panels	77
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	69
Fabry cardiomyopathy in Finland: A Fabry registry study	69
Cover 2 / Ed. Board	43
Charles Scriver: Epitome of the physician scientist	42
Long-term follow-up in an adult patient with Schindler disease	41
Characterization of in vivo and in vitro drug screening models for Gaucher disease based on GBA-D409V-KI mice	38
Importance of the long non-coding RNA (lncRNA) transcript HULC for the regulation of phenylalanine hydroxylase and treatment of phenylketonuria	36
Arimoclomol reduces levels of biomarkers of lipid burden in patients with Niemann-Pick disease type C	34
Clinical and laboratory profile of a pediatric Fabry disease cohort followed at a Brazilian reference center	33
SANFILLIPPO SYNDROME TYPE A IN A BOY WITH DOWN SYNDROME: A DUAL DIAGNOSTIC CHALLENGE	31
Establishing the content validity of the Fabry Disease-Patient Reported Outcome (FD-PRO) for adolescent patients with Fabry disease	30
Table of Contents	29
A RAPID, IMPROVED METHOD FOR DETECTION OF N-ACETYLGLUTAMATE, N-CARBAMYLGLUTAMATE, AND N-ACETYLASPARTATE BY HIGH-PERFORMANCE LIQUID CHROMATOGRAPHY	28
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use	26
Biomimetic 3D tissue printing to create an in vitro bone model for Gaucher disease	26
Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene	26
-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease	25
When simultaneous detection becomes possible: A new screening method for lysosomal diseases	24
Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease	24
MPS II models for the study of joint and bone pathophysiology using CRISPR/Cas9 technology	24
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	24
Insights into patients' expectations and treatment preferences based on the patient needs questionnaire: Interim results from the SATIS-Fab study in Fabry disease	23
Intra-articular administration of nonviral vectors aminh at mucopolysaccharidosis type I mice gene editing	23
Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening	22

Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease	22
Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency	21
FDrisk: Development of a validated risk assessment tool for Fabry disease utilizing electronic health record data	21
Neuroradiological evaluation of Fabry disease patients in follow-up in a reference center before ERT	21
Prevalence of cancer among 867 patients with Gaucher disease from the SZMC Gaucher unit	21
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis	21
Building a better translational model of neuropathic Gaucher disease	21
Single centre review and analysis of enzyme replacement therapy infusion associated reactions in patients with lysosomal disorders	20
Life-span extension in Krabbe disease mice by treatment with a transferrin receptor-targeted galactocerebrosidase	20
Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience	20
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease	19
Impact of ASGR1 on the hepatic expression and localization of NEU1	19
Elucidation of the pathogenesis of heparan sulfate in MPS IIIB mice using a membrane-tethered form of NAGLU	19
Unveiling Fabry disease journey to diagnosis: An analysis based on two United States claims databases	19
Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis	19
Variable clinical and brain neuroradiological manifestations in four patients with beta mannosidosis	19
P.16 Novel tool for dietary management and monitoring in clinical trials of pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria	18
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey	18
P.49 Uncommon rare disease nutrition management: hypokalemic periodic paralysis	18
Growth requirement for methionine in human melanoma-derived cell lines with different levels of MMACHC expression and methylation	18
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening	18
Brain proton MR spectroscopy measurements in CLN3 disease	18
Oxidative metabolism induces differential miRNA expression in mitochondrial disease LCLS	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
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling	17
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	17
Persistently elevated alloisoleucine in a patient without maple syrup urine disease	17
A novel AAV-based gene therapy strategy reverses lethality in a murine model of neuronopathic Gaucher disease	16
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis	16
In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease	16
Longer-term efficacy and safety evaluation of arimoclomol treatment in patients with Niemann-Pick disease type C – Data from 48 months open label trial	16
Update on high-risk population screening for neuronal ceroid lipofuscinoses (NCL1 and NCL2)	16
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
Preimplantation genetic testing (PGT) to reduce the risk for GBA-related Parkinson disease: Expanding of applications for embryo selection	16
Cardiovascular structure and function in MPS VII subjects	15
Cover 2 / Ed. Board	15
Assessment of carnitine deficiency in Moroccan patients: A high sensitivity and specificity enzymatic approach	15
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation	14
Cover 2 / Ed. Board	14
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes	14
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	14
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
Communication and eating & drinking skills in five children with CLN2 at the time of diagnosis	14
WORLDSymposium™ 2022 Introduction	13
The use and performance of lyso-Gb3 for the diagnosis and monitoring of Fabry disease: A systematic literature review	13
Genetics-based infusion centers: Report of 16 years experience of one Brazilian center	13
It's time to reconsider the newborn screening RUSP prospective pilot study “N of 1” rule	13
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	13
Best practice recommendations for the management of anxiety during the pegvaliase journey	13

High-risk population screening for the mucopolysaccharidoses (MPS)	12
Pharmacological chaperones as an alternative to increase GALNS activity in mucopolysaccharidosis type IVA	12
Membrane-tethered form of NAGLU used to elucidate pathogenesis of heparan sulfate in MPS IIIB mice	12
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II	12
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains	11
Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice	11
A Suspicion Index Tool (SIT) to aid diagnosis of ASMD disease: Design and first results	11
Bone disease in mucopolysaccharidosis type I: Morphological, structural and biomechanical characterization, and effect of different treatment approaches	11
Generation of isogenic iPSC lines to investigate the pathogenesis of -associated Parkinson's disease	11
Usability study of a new bottle for cystaran eye drops in cystinosis subjects currently on eyedrop therapy for corneal cystine crystal accumulation	11
Comparing treatment options for Fabry disease: Feasibility assessment for network meta-analysis (NMA)	11
Psychosine predicts age of onset in babies with Krabbe disease	11
Assessing the impact of pain on health-related quality of life (HRQoL) in patients with Fabry disease	11
Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha--acetylglucosaminidase (Sanfilippo syndrome type B)	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
Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy	11
Studying the role of autophagy in Krabbe disease	11
Somatic outcomes in a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II	10
THE JUMP (JOURNEY TO UNDERSTAND MMA AND PA) STUDY: A NATURAL HISTORY STUDY CONDUCTED BY HEMOSHEAR AND ALLSTRIPES	10
Tenascin C down regulation in a neuron model of Fabry disease	10
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey	10
First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS	10
DNL310 phase 1/2 case study demonstrates properties of raw, standard and growth scale scores for adaptive behavior scales	10
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 5132 infusions	10
ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES	10
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa	10
CK-MM as a second-tier test for Pompe disease newborn screening	10
From mouse to sheep: Generating a sheep model and developing a gene therapy for sialidosis	10
Neurodevelopmental outcomes of hematopoietic stem cell transplantation for infantile Krabbe disease diagnosed through newborn screening	10
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1	10
RECAPITULATION OF METABOLIC DEFECTS IN MODELS OF THE UREA CYCLE DISORDERS CPS1, OTC, ASS1, ASL, AND ARG1 USING PATIENT-DERIVED PRIMARY HEPATOCYTES	10
Niemann-Pick disease type C: A description of patients followed at a reference center in São Paulo - a retrospective study	10
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction	10
Blood sulfatides as disease biomarker for metachromatic leukodystrophy: Disease characterization, early diagnosis, and response to treatment	10
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up	10
A targeted literature review on the manifestations and clinical burden in patients with Fabry disease	9
Long-term hematopoietic stem cell lentiviral gene therapy rescues neuromuscular manifestations in preclinical study of Pompe disease mice	9
Rare disorders, big challenges: Special issue on congenital disorders of glycosylation	9
The role of functional assays and multiomics for diagnosis and discovery in methylmalonic acidemia	9
Motor deficits in homozygous 6 mice as model of Pompe disease	9
Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires	9
MT-TI Gitelman-like syndrome presentation in an adult with muscle fasciculations and normal magnesium levels	9
Variable clinical and brain radiological manifestations in four patients with beta mannosidosis	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
A rabbit model of cystinosis has deposition of cystine crystals in the cornea	9
Development of a novel MSMS based enzyme assay for ECHS1 deficiency and blood based biomarkers for early detection of critically ill infants	9
Development of a suspicion index tool to aid diagnosis of ASMD disease	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	8
Retrospective study to analyze and validate a set of potential predictive markers to identify lysosomal acid lipase deficiency	8
Changes in CSF GAG after intravenous enzyme replacement therapy	8
Maternal health outcomes in ornithine transcarbamylase deficiency: A comparative analysis of pregnancies in symptomatic and asymptomatic heterozygotes	8
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases	8
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	8
Abstracts for Short Oral Presentations	8
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	8
Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada	8
Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency	8
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing	8
The value of MR spectroscopy and MR elastography in assessing hepatic involvement of chronic visceral acid sphingomyelinase deficiency in adults	8
Systematic literature review of the clinical effectiveness, safety, quality of life, epidemiology and economic burden associated with cystinosis	8
REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?	8
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	8
P.25 Diet, growth, body composition and resting energy expenditure in propionic acidemia	8
Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening	8
FollowME Fabry Pathfinders registry: Patient-reported outcomes in a cohort of patients on migalastat treatment for median 4 years	8
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	8
Indirect treatment comparisons of pegunigalsidase alfa vs other therapies for left ventricular mass index in Fabry disease	8
RETROSPECTIVE EVALUATION OF SPECIFIC AMINO ACID RATIOS FOR SCREENING AND DIAGNOSTIC UTILITY FOR PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY (PDCD) AND OTHER MITOCHONDRIAL DISORDERS (MTDS)	8
ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS	8
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
Transient depletion of pre-existing antibodies for efficient AAV gene delivery	7
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data	7
PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA	7
Sialic acid related disorders diagnosis: The experience of the first Moroccan reference center of inherited metabolic diseases	7
Evaluating the performance of 16 in silico predictors on 22 lysosomal diseases	7
Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal	7
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases	7
Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II	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
Molecular mechanism of resveratrol-induced autophagy in mouse model of Sanfilippo syndrome type IIIB	7

Pilot study of novel optokinetic nystagmus-based visual acuity test in children with CLN2 disease	7
DESIGN OF A GLOBAL, MULTICENTER STUDY TO ASSESS MATERNAL, FETAL, AND INFANT OUTCOMES OF PEGVALIASE EXPOSURE DURING PREGNANCY AND BREASTFEEDING	7
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice	7
Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations	7
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	7
Cardiac phenotype in Hunter syndrome widening the spectrum	7
RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency	7
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses	7
Anti-AAV6 antibody assay for patient enrollment supporting ST-920 phase 1/2 study for Fabry disease	7
Genome editing in mucopolysaccharidosis type IVA fibroblasts using CRISPR/Cas9	7
ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY	7
The expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor and language function: Development and inter-rater reliability	7
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs	7
Take him home and love him: The experiences of families with Hunter syndrome at home.	7
Genetic reduction of muscle glycogen is well tolerated in UK Biobank participants	7
The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial	7
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores	7
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake	7
Editorial Board	6
Treatment dilemmas in an individual diagnosed with infantile-onset Pompe disease and sickle-cell anemia	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
Spot the stop: A multi-channel campaign to improve early diagnosis of Tay-Sachs disease among healthcare professionals	6
Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening	6
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5	6
Importance of including α-mannosidosis in a combined testing protocol with MPS in patients suspected of a mucopolysaccharidosis	6
Mild Gaucher disease genotype is associated with more pronounced progress of pathologic midbrain sonography in the Sidransky syndrome	6
CLN2 disease resulting from a novel homozygous deep intronic splice variant in discovered using long-read sequencing	6
Systematic literature review on the epidemiology, diagnosis, and natural history of alpha mannosidosis	6
Long-term outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation	6
Residual galactosylceramidase activity correlates with psychosine levels in GALC missense variants cell model of Krabbe disease	6
Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices	6
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy	6
Hydrotherapy as a therapeutic modality for treating pain and improving mobility in adults with mucopolysaccharidosis type II	6
Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study	6
WORLDSymposium™ 2024 Introduction	6
Specific medical simulation trainings for parents of MPS patients: An innovative approach and its psychological benefits	6
THE BIOCHEMICAL PROFILE AND DIETARY MANAGEMENT IN S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	6
Short-term daily treatment of MPS IIIA mice with rosmarinic acid is neuroprotective	6
Successful orthotopic heart transplantation in CPTII deficiency	6
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	6
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I	6
Treatment of cardiac, neurologic, and skeletal manifestations of murine MPS I with AAV9-IDUA: Efficacy study of vector dose and route of administration	5
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease	5
Inborn errors of the malate aspartate shuttle – Update on patients and cellular models	5
Phenylalanine hydroxylase (PAH) deficiency in old order Amish communities: from genotype to clinical management.	5
Bridging the gap in access to filter paper monitoring in patients with phenylketonuria – a Medical Nutrition Therapy for Prevention (MNT4P) program initiative	5
Neurocognitive outcome in mucopolysaccharidosis type 1 (Hurler phenotype) post HSCT	5
Long term follow up of lymphadenopathy in Egyptian Gaucher disease children and adolescents	5
Development of a signs and symptoms outcome measure for caregivers of patients with methylmalonic acidemia and propionic acidemia (MMAPAQ)	5
Correlation between bone manifestations and variants of the GBA gene in Gaucher disease: A systematic review	5
Gene therapy for metachromatic leukodystrophy: Lead candidate optimization	5
Pediatric experience of Fabry patients since the advent of ERT	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
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry	5
Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3	5
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	5
MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN PROPIONIC ACIDEMIA	5
Medical information consumption and sharing practices in lysosomal diseases: A clinician perspective	5
A retrospective chart review of supportive care in patients with mucopolysaccharidosis type II in the United States	5
P.45 Use of soluble fiber to mitigate gastrointestinal side effects of triheptanoin: a case report	5
Incidental diagnosis of lysosomal diseases by expanded carrier screening and direct-to-consumer genetic testing	5
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter extension study in adult patients with Fabry disease	5
At a glance: The largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years	5
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)	5
DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia	5
Predictive model for estimating the risk of bone mineral loss in Gaucher disease	5
Proteomics identifies novel biomarkers of synovial joint disease in a canine model of mucopolysaccharidosis I	5
Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies	5
The utilization of a combination of TLC-UHPL/MS-MS and molecular networking in the assessment and prediction of Fabry and Sandhoff diseases	5
Estimation of arrhythmia risk in patients with Fabry disease using a machine learning model	5
Identification of cathepsin D as a potential biomarker of CLN5 function in an early stage potency assay	5
Table of Contents	5
Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy	4
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	4
The model of citrin deficiency: Adopting a new approach to rare diseases	4
PS Gene-editing system corrects the CNS with blood-brain barrier penetrant ApoE-enzymes	4
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases	4
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery	4
Comparison of therapeutic potential of ERT to chaperone therapy in I270T related Fabry disease	4
Tailored diagnostic decision tree resulting from machine learning to improve early diagnosis of ASMD	4
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	4
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	4
Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity	4
Early potentially irreversible cardiac damage in Fabry disease precedes Gb3 inclusion body formation	4
Remote technologies for monitoring gait changes due to neurodegenerative diseases in children: Evaluation, issues, and future promise	4
Patient with GSD-III: candidate for liver transplantation?	4
Repeated-dose oral -acetylcysteine in Gaucher disease: Pharmacokinetics summary	4
Real-world experiences with taliglucerase alfa home infusions for patients with Gaucher disease: A global cohort study	4
Mucopolysaccharidoses in 81 patients: Neurological aspects	4
Pegvaliase treatment for adolescents with phenylketonuria: Clinical experience and discontinuation patterns	4
Metabolic providers in crisis – Burning out on the road to burnout?	4
Long term enzyme replacement therapy after hematopoietic stem cell transplant results in immune tolerance and improved biochemical outcomes	4
Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease	4
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis	4
Efficacy of miglustat treatment in a patient with associated action myoclonus renal failure syndrome	4