Molecular Genetics and Metabolism Reports

Article	Citations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report	22
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
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
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait	17
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism	16
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome	15
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms	14
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	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
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia	11
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations	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
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria	11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect	9
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
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease	8
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review	8
Newborn screening, genetic analysis, and long-term follow-up of 89 cases with short-chain acyl-CoA dehydrogenase deficiency (SCADD)	8
Galactose tolerance in adults with classical galactosaemia. Considering the gaps	8
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
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease	7
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype	7
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction	7
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands	7

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China	6
Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study	6
Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature	6
Newborn screening for spinal muscular atrophy in Japan: One year of experience	6
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase	6
CRISPR correction of the Finnish ornithine delta-aminotransferase mutation restores metabolic homeostasis in iPSC from patients with gyrate atrophy	6
Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates	6
The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency	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
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
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency	5
Medication adherence in Fabry patients treated with migalastat: Real world experience	5
The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia	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
The diagnostic journey for patients with late-onset GM2 Gangliosidoses	5
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease	5
Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect	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
Clinical characterization and genetic analysis of transient abnormal myelopoiesis without the down syndrome phenotype	5
GBA1 variants in Brazilian Gaucher disease patients	5
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy	5
BALB.NCT-Cpox is a unique mouse model of hereditary coproporphyria	5
DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings	5
MPS VII – Extending the classical phenotype	5
Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family	5
Shared decision making between patients with Fabry disease and physicians in Japan: An online survey	5
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
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study	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
Association of ZBTB38 gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia	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
A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre	4
Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta	4
Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice	4
Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey	4
Cost analysis of newborn screening for spinal muscular atrophy using digital PCR vs. MLPA	4
New mutations identified in a case of Glycogenin-1 deficiency	4
Relief of nocturnal neuropathic pain with the use of cannabis in a patient with Fabry disease	4
Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience	4
A novel frameshift variant in the SLC2A1 gene causing a mild phenotype of GLUT1 deficiency syndrome: case report	4
A synonymous KCNJ11 variant leading to MODY13: A case report and literature review	4
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights	4
Blepharoptosis in infantile onset Pompe disease: Histological findings and surgical outcomes	4
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome	4

Psychosocial adaptation of children and adolescents with phenylketonuria in Korea	4
Dietetic management of adults with Classical Galactosaemia in the UK: A care consensus document	4
Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran	4
Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan	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
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland	4
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series	4
Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report	4
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan	4
Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report	4
Biochemical characterization of the FH variant p.Lys414Glu reveals loss of enzymatic function and disrupted multimerization	4
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation	4
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program	4
The mutation spectrum and ethnic distribution of Wilson disease, a review	4
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty	4
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico	3
A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene	3
GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases	3
Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant	3
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment	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
Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype	3
Natural history of propionic acidemia in the Amish population	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
Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?	3
Corrigendum to “A new pathogenic POLG variant” [Molecular Genetics and Metabolism Reports 32 (2022) 100890]	3
A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	3
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al	3
An unusually mild case of biotin-thiamine-responsive basal ganglia disease	3
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants	3
Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion)	3
First combined analysis of SMN1, SMN2, and NAIP copy numbers in Moroccan SMA patients and their correlation with disease severity	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
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review	3
Corrigendum to “Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1”	3
GNE myopathy with premature ovarian failure: Case report and review of the literature	3
Baseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran	3
Breastfeeding practices for infants with inherited metabolic disorders: A survey of registered dietitians in the United States and Canada	3
Generation of GLA-knockout human embryonic stem cell lines to model peripheral neuropathy in Fabry disease	3
Serum hepcidin as a biomarker of treatment response in Gaucher disease	3
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening	3
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency	3
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme	3
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency	3
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study	3
Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review	3
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype–phenotype trends and novel GALNS variants	3
Acute profound lactic alkalosis associated with NDUFV1 compound heterozygosity in a previously healthy 6-year-old female	3
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency	3
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa	3
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene	3
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam	3
Navigating social determinants of health barriers in the management of phenylketonuria	3
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study	3
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
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
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
Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study	2
First reported case of adult-onset very long-chain acyl-coa dehydrogenase (vlcad) deficiency in Vietnam: a rare metabolic myopathy	2
Mucopolysaccharidoses: A biochemical study under limited resources	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
Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program	2
Title Page	2
A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review	2
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report	2
A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy	2
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation	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
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options	2
Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family	2
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases	2
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review	2
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era	2
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series	2
Severe nonketotic hyperglycinaemia due to a synonymous variant	2
Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation	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
Bilateral avascular necrosis: A rare complication of Fabry disease	2
Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report	2
Lipid nanoparticle delivers phenylalanine ammonia lyase mRNA to the liver leading to catabolism and clearance of phenylalanine in a phenylketonuria mouse model	2
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis	2
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	2
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report	2
Early diagnosis and management in Gaucher disease: A case series emphasizing the critical role of newborn screening	2
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS	2
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry	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
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
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy	2
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis	2
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy	2
Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience	2
Partial suppression of BCAA catabolism as a potential therapy for BCKDK deficiency	2
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response	2
Focal segmental glomerulosclerosis with a mutation in the mitochondrially encoded NADH dehydrogenase 5 gene: A case report	2
Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants	2
The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities	2
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics	2
Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism	2
Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders	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
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemia	2
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes	2
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus	2
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia	2
Management of erythropoietic protoporphyria with cholestatic liver disease: A case report	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
Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias	1
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis	1
Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China	1
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency	1
Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review	1
Our lives with PKU: German patient voices - “Nothing about us without us”	1
Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes	1
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test	1
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots	1
Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry	1
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review	1
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations	1
Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome	1
Treating the whole patient: Facilitating health care for patients facing health inequity	1
Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study	1
Dysregulated DNA methylation in the pathogenesis of Fabry disease	1
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder	1
Translation of quality of life scale for pediatric patients with Fabry disease in Japan	1
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers	1
Oral health care knowledge among Phenylketonuria patients in the Latvian population	1
Increased atherosclerosis in a mouse model of glycogen storage disease type 1a	1
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature	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
Cerebral folate deficiency: A report of two affected siblings	1
Plasma arginine levels in arginase deficiency in the “real world”	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
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy	1
Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency	1
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant	1
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review	1
Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene	1
Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency	1
Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges	1
Carbamoly-phosphate synthetase 1 (CPS1) deficiency: A tertiary center retrospective cohort study and literature review	1
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly	1
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome	1
Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria	1
Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia	1
The role of genetic testing in suspected fulminant myocarditis: A case report	1
Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation	1
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease	1
Reinstitution of pegvaliase therapy during lactation	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
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
Growth patterns in patients with mucopolysaccharidosis VII	1
Empagliflozin as treatment in glycogen storage disease type IB patients	1
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data	1
An 18-month-old girl with Vici syndrome: A case report study	1
Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype	1
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver	1
Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study	1
Automated urinary sediment detection for Fabry disease using deep-learning algorithms	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
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay	1
The association between circulating phenylalanine and the temporal risk of impaired insulin markers in gestational diabetes mellitus	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
Cytochrome P450 genes expression in human prostate cancer	1
Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA	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
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre	1
Cytosolic PEPCK deficiency caused by a novel homozygous frame-shift variant presenting as resolved hypoglycemia and acute liver failure at birth	1
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies	1