Molecular Genetics and Metabolism Reports

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	23
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]	19
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	19
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
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	18
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	16
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	14
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	14
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	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	10
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models	9
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots	9
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	9
Galactose tolerance in adults with classical galactosaemia. Considering the gaps	8
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD)	8
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	7
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	7
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	7
Medication adherence in Fabry patients treated with migalastat: Real world experience	6
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	6
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Propionic acidemia in Mexico: Clinical and genotypic spectrum	6
Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study	6

The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	6
Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis	6
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	6
Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system	6
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon	6
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	6
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	6
Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy versus human induced pluripotent stem cell technology	6
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	6
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	6
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	5
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
MPS VII – Extending the classical phenotype	5
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	5
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	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
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	5
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	5
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns	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
LC-MS/MS-based enzyme assay for lysosomal acid lipase using dried blood spots	5
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	4
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	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
GBA1 variants in Brazilian Gaucher disease patients	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	4
Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	4
New mutations identified in a case of Glycogenin-1 deficiency	4
DGUOK-related mitochondrial DNA depletion syndrome presenting with neonatal cholestasis without marked hyperlactatemia: A diagnostic pitfall	4
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan	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
Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening	4
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	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

Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion	4
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	4
Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4
Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation	4
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	4
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity	3
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	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
Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases	3
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	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
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant	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
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
Natural history of propionic acidemia in the Amish population	3
The mutation spectrum and ethnic distribution of Wilson disease, a review	3
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	3
Navigating social determinants of health barriers in the management of phenylketonuria	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
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase	3
Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria	3
Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report	3
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	3
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	3
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience	3
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1	3
A survey on the patient journey in Fabry disease in Japan	3
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	2
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	2
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	2
Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation	2
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	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 new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry	2
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency	2
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series	2
Case report: Hepatocellular carcinoma in a patient with Pyridoxamine 5-phosphate oxidase (PNPO) deficiency undergoing pyridoxal 5-phosphate (PLP) treatment	2
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA	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
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
Natural history of three late-diagnosed classic Galactosemia patients	2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	2
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	2
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	2
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	2
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	2
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	2
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	2
Use of T1 mapping in cardiac MRI for the follow-up of Fabry disease in a pediatric population	2
Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings	2
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	2
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation	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 case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis	2
First reported case of adult-onset very long-chain acyl-coa dehydrogenase (vlcad) deficiency in Vietnam: a rare metabolic myopathy	2
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family	2
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants	2
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy	2
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report	2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report	2
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	2
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	2

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	2
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	2
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	2
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report	2
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	2
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	2
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	2
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	2
Autosomal recessive ELOVL1-related disorder presenting with severe neonatal cholestasis: A novel clinical feature?	2
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model	2
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review	2
Severe nonketotic hyperglycinaemia due to a synonymous variant	2
Mucopolysaccharidoses: A biochemical study under limited resources	2
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation	2
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	2
Serum hepcidin as a biomarker of treatment response in Gaucher disease	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
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study	2
Title Page	2
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study	1
Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause	1
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data	1
Plasma arginine levels in arginase deficiency in the “real world”	1
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers	1
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	1
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants	1
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant	1
Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China	1
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	1
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program	1
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review	1
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy	1
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate 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
Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study	1
Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis	1
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	1
The role of genetic testing in suspected fulminant myocarditis: A case report	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
Dysregulated DNA methylation in the pathogenesis of Fabry disease	1
Oral health care knowledge among Phenylketonuria patients in the Latvian population	1
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly	1
Renoprotective effects of SGLT2 inhibitors in patients with Fabry disease	1
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies	1
Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus	1
Empagliflozin as treatment in glycogen storage disease type IB patients	1
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis	1
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria	1
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease	1
Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism	1
Our lives with PKU: German patient voices - “Nothing about us without us”	1
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review	1
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver	1
Olipudase alfa treatment for pediatric acid sphingomyelinase deficiency in Egypt: A prospective, observational cohort study with an interventional subgroup	1
Cytochrome P450 genes expression in human prostate cancer	1
Underdiagnosis of Fabry disease in minority ethnic groups	1
A novel nonsense mutation in the insulin receptor gene in a patient with HAIR-AN syndrome and endometrial cancer	1
An 18-month-old girl with Vici syndrome: A case report study	1
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia	1
Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data,	1
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism	1
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review	1
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia	1
A 53-week, open-label phase IIIb study of velaglucerase alfa in Chinese patients with type 1 Gaucher disease: Safety, efficacy, and pharmacokinetics	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
Growth patterns in patients with mucopolysaccharidosis VII	1
Improvement in quality of life and general functions in pediatric acid sphingomyelinase deficiency patients after receiving olipudase alfa: A single-center experience in Taiwan	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
Automated urinary sediment detection for Fabry disease using deep-learning algorithms	1
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	1
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature	1
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay	1
Cerebral folate deficiency: A report of two affected siblings	1
Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy―Avoiding in vitro inhibition effects	1
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency	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
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	1
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges	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
Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry	1
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening	1
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome	1
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review	1
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre	1
Treating the whole patient: Facilitating health care for patients facing health inequity	1
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	1
Bilateral avascular necrosis: A rare complication of Fabry disease	1
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype	1
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation	1
Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review	1
Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants	1
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	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