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 2021-11-01 to 2025-11-01.)
ArticleCitations
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report17
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 chromatography17
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria16
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 hyperammonemia15
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 therapy14
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]14
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands12
A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia12
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms12
FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations12
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect11
Complex response to physiological and drug-induced hepatic heme demand in monoallelic ALAS1 mice11
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
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review11
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