Molecular Genetics and Metabolism Reports

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	19
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	18
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	17
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	16
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]	15
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	14
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	13
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	12
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	12
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	11
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	11
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	11
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	11
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	10
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	10
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	8
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	8
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	7
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	7
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	7
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	7
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	7
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	7
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	7
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	7

Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	6
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	6
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	6
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	6
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis	5
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	5
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	5
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	5
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	5
Medication adherence in Fabry patients treated with migalastat: Real world experience	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	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
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
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
Expression signature of the Leigh syndrome French-Canadian type	4
MPS VII – Extending the classical phenotype	4
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	4
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	4
LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations	4
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – 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
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	4
Hematopoietic cell transplantation for sialidosis type I	4
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	4
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	4
GBA1 variants in Brazilian Gaucher disease patients	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	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

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	4
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	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
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
The mutation spectrum and ethnic distribution of Wilson disease, a review	3
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	3
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	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
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	3
Natural history of propionic acidemia in the Amish population	3
New mutations identified in a case of Glycogenin-1 deficiency	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	3
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	3
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	3
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation	3
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	3
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	3
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute	3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	3
A survey on the patient journey in Fabry disease in Japan	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	2
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review	2
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	2
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy	2
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	2
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings	2
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3	2
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family	2
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population	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
Management of erythropoietic protoporphyria with cholestatic liver disease: 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
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis	2
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report	2
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation	2
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	2
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	2
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	2
Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?	2
Title Page	2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report	2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	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
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	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
Severe nonketotic hyperglycinaemia due to a synonymous variant	2
Natural history of three late-diagnosed classic Galactosemia patients	2
Safety of a protocol for reduction of agalsidase beta infusion time in Fabry disease: An Italian multi-centre study	2
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation	2
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants	2
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	2
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	2

α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	2
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	2
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	2
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	2
Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of	2
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency	2
RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A	2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	2
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA	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
Mucopolysaccharidoses: A biochemical study under limited resources	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 MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome	2
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study	2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	2
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series	2
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	2
Serum hepcidin as a biomarker of treatment response in Gaucher disease	2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model	2
Our lives with PKU: German patient voices - “Nothing about us without us”	1
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism	1
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis	1
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation	1
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges	1
The role of genetic testing in suspected fulminant myocarditis: A case report	1
Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease	1
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program	1
Oral health care knowledge among Phenylketonuria patients in the Latvian population	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
Dysregulated DNA methylation in the pathogenesis of Fabry disease	1
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA	1
Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth	1
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria	1
Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus	1
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy	1
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature	1
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly	1
An 18-month-old girl with Vici syndrome: A case report study	1
Automated urinary sediment detection for Fabry disease using deep-learning algorithms	1
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies	1
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data	1
Empagliflozin as treatment in glycogen storage disease type IB patients	1
Translation of quality of life scale for pediatric patients with Fabry disease in Japan	1
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	1
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia	1
Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause	1
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry	1
Underdiagnosis of Fabry disease in minority ethnic groups	1
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening	1
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	1
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation	1
Growth patterns in patients with mucopolysaccharidosis VII	1
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay	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
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	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
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients	1
Plasma arginine levels in arginase deficiency in the “real world”	1
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review	1
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	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
Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review	1
Bilateral avascular necrosis: A rare complication of Fabry disease	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
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency	1
Reinstitution of pegvaliase therapy during lactation	1
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	1
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant	1
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	1
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants	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
Comment on: Lee J.Z.C. et al. Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment. Mol Genet Met	1
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia	1
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study	1
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria	1
Treating the whole patient: Facilitating health care for patients facing health inequity	1
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy	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
Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China	1
Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism	1
Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias	1
Cerebral folate deficiency: A report of two affected siblings	1
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers	1
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	1
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a	1
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre	1
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review	1
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	1