Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

2024-10-5

Compensation for metabolic dietitians practicing in the United States: 2023 genetic metabolic dietitians international professional status survey

2024-9-29

Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report

2024-9-28

OTC gene duplication as the possible cause of massive hyperammonaemia with a fatal prognosis

2024-9-28

A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient

2024-9-25

MADD-like pattern of acylcarnitines associated with sertraline use

2024-9-16

Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation

2024-9-14

Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families

2024-9-9

Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report

2024-8-31

An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency

2024-8-31

Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report

2024-8-29

Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

2024-8-29

The broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia

2024-8-24

Health economic impact of patients with phenylketonuria (PKU) in France – A nationwide study of health insurance claims data

2024-8-20

Diagnostic challenge of cutis Verticis Gyrata (CVG) in a patient presenting clinical features of Noonan or turner syndrome

2024-8-14

Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China

2024-8-2

Table of Contents

2024-8-1

Title Page

2024-8-1

A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis

2024-7-31

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

2024-7-30

Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review

2024-7-30

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

2024-7-26

Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review

2024-7-24

Desensitization of olipudase alfa-induced anaphylaxis in a child with chronic neurovisceral acid sphingomyelinase deficiency

2024-7-17

A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia

2024-7-16

Comparative study on incorporation of three recombinant human α-galactosidase A drugs (agalsidases) into cultured fibroblasts and organs/tissues of Fabry mice

2024-7-15

Fatal consequences of limited health literacy in a patient with a rare metabolic disease

2024-7-14

Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review

2024-7-13

Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan

2024-7-13

Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III

2024-7-9

Clinical, genetic characteristics and outcome of four Chinese patients with Bartter syndrome type 3: Further insight into a genotype-phenotype correlation

2024-7-5

An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test

2024-7-4

Pegvaliase-induced immediate hypersensitivity reaction after the discontinuation of antihistamine therapy in a patient with phenylketonuria – Case report

2024-7-1

Novel compound heterozygous mutations in LEP responsible for obesity in a Chinese family

2024-6-29

Initiation of fluoxetine in a pediatric patient with Mucopolysaccharidosis IIIA: Early observations

2024-6-28

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

2024-6-26

Management of a urea cycle disorder in the setting of socioeconomic and language barriers

2024-6-25

Effectiveness and tolerability of givosiran for the management of acute hepatic porphyria: A monocenter real-life evaluation

2024-6-22

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase

2024-6-21

Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran

2024-6-19

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency

2024-6-18

Familial schwannomatosis carrying LZTR1 variant p.R340X with brain tumor: A case report

2024-6-18

Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China

2024-6-17

Histologic and ultrastructural study of intracranial Gaucheroma causing deafness in a patient with Gaucher disease type 3: Effects of substrate reduction therapy

2024-6-14

The association between circulating phenylalanine and the temporal risk of impaired insulin markers in gestational diabetes mellitus

2024-6-14

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

2024-6-8

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil

2024-6-7

Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data

2024-6-7

Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype

2024-6-4

Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders

2024-5-30