Molecular Genetics and Metabolism Reports

Article	Citations
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy	18
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	17
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	16
Compound heterozygote variants: c.848A > G; p.Glu283Gly and c.890C > T; p.Ala297Val, of Isovaleric acid-CoA dehydrogenase (IVD) gene causing severe Isovaleric acidemia with hyperammonemia	14
Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]	13
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography	12
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	12
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	11
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	11
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	11
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	11
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	11
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice	10
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	10
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	10
MAN1B1-CDG: Three new individuals and associated biochemical profiles	9
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	9
Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHAD	9
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale	9
Newborn screening for spinal muscular atrophy in Japan: One year of experience	9
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	9
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	9
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders	8
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	8

Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	8
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	8
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature	7
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	7
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	7
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	7
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	7
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	7
Quality of life in children living with PKU – a single-center, cross-sectional, observational study from Hungary	7
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	7
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	6
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	6
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics	6
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials	6
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	6
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	6
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM-IS database	6
Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	6
Medication adherence in Fabry patients treated with migalastat: Real world experience	6
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	6
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Expression signature of the Leigh syndrome French-Canadian type	5
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
Hematopoietic cell transplantation for sialidosis type I	5
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	5
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	5
GBA1 variants in Brazilian Gaucher disease patients	5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	5
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report	5
MPS VII – Extending the classical phenotype	5
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses	5
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	5
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	5
The mutation spectrum and ethnic distribution of Wilson disease, a review	4
Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy	4
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Corrigendum to “Long-term follow-up of renal function in patients treated with migalastat for Fabry disease” [Bichet et al., MGM Reports; 28 (2021) 100786]	4
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism	4
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4

Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
New mutations identified in a case of Glycogenin-1 deficiency	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4
Two decades of experience of the Fabry Outcome Survey provides further confirmation of the long-term effectiveness of agalsidase alfa enzyme replacement therapy	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	3
Natural history of propionic acidemia in the Amish population	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Protective effects of alpha-lipoic acid on hair cell damage in diabetic zebrafish model	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Current status of surviving patients with arginase 1 deficiency in Japan	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta	3
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Valine metabolites analysis in ECHS1 deficiency	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening	3
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	3
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series	2
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	2
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A	2
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	2
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation	2
Natural history of three late-diagnosed classic Galactosemia patients	2
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family	2
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	2
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	2
Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet	2
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	2
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	2
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	2
A survey on the patient journey in Fabry disease in Japan	2
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	2
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report	2
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?	2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report	2
Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment	2
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants	2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	2
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population	2
Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype	2
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	2
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	2
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review	2
The patients` perspective on home-based infusion: A longitudinal observational study in the German healthcare setting for patients with lysosomal storage disorders treated with enzyme replacement ther	2
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	2
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG	2
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	2
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation	2
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Resul	2
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	2

Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experie	2
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	2
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	2
Chitotriosidase as a biomarker for gangliosidoses	2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	2
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA	2
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis	2
Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study	2
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthetase 1 deficiency	2
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	2
Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease	2
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study	2
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome	2
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study	2
Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study	2
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation	2
Title Page	2
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	2
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	2
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII	2
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	2
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings	2
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency	2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model	2
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia	1
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges	1
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	1
Treating the whole patient: Facilitating health care for patients facing health inequity	1
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study	1
Cerebral folate deficiency: A report of two affected siblings	1
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a	1
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	1
Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Co	1
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease	1
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation	1
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review	1
Bilateral avascular necrosis: A rare complication of Fabry disease	1
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia	1
Automated urinary sediment detection for Fabry disease using deep-learning algorithms	1
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	1
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry	1
Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases	1
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy	1
Oral health care knowledge among Phenylketonuria patients in the Latvian population	1
Multiple variants in XDH and MOCOS underlie xanthine urolithiasis in dogs	1
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria	1
Dysregulated DNA methylation in the pathogenesis of Fabry disease	1
Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease	1
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria	1
Prevalence of cerebral small vessel disease in a Fabry disease cohort	1
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay	1
Growth patterns in patients with mucopolysaccharidosis VII	1
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly	1
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers	1
Corrigendum to “Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II” [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 1010	1
An 18-month-old girl with Vici syndrome: A case report study	1
Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China	1
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies	1
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects	1
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	1
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	1
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency	1
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease	1
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia	1
Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series	1
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities	1
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review	1
Translation of quality of life scale for pediatric patients with Fabry disease in Japan	1
Underdiagnosis of Fabry disease in minority ethnic groups	1
The role of genetic testing in suspected fulminant myocarditis: A case report	1
“Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients”	1
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data	1
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb	1
Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias	1
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants	1
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	1
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	1
Generation of an in vitro model for peripheral neuropathy in Fabry disease using CRISPR-Cas9 in the nociceptive dorsal root ganglion cell line 50B11	1
Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause	1
Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth	1
Plasma arginine levels in arginase deficiency in the “real world”	1
Reinstitution of pegvaliase therapy during lactation	1
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy	1
Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome	1
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	1
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism	1
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses	1
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation	1
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	1
Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier	1
Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus	1
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA	1
Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism	1