Molecular Genetics and Metabolism Reports

Papers
(The H4-Index of Molecular Genetics and Metabolism Reports is 11. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-05-01 to 2026-05-01.)
ArticleCitations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report22
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 hyperammonemia18
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait17
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism16
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome15
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms14
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 therapy13
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 chromatography12
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations11
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 Scale11
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria11
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia11
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