Molecular Genetics and Metabolism Reports

Papers
(The H4-Index of Molecular Genetics and Metabolism Reports is 10. 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 2022-08-01 to 2026-08-01.)
ArticleCitations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report23
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism19
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
Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome18
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 therapy18
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 chromatography16
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria14
SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait14
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia11
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 Scale10
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