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 2021-05-01 to 2025-05-01.)
ArticleCitations
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
Aldolase A deficiency: Report of new cases and literature review18
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms17
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report14
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 hyperammonemia13
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]12
Physical, cognitive, and social status of patients with urea cycle disorders in Japan12
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse11
Idiosyncratic drug-induced liver injury caused by givosiran in a patient with acute intermittent porphyria11
Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands11
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect10
Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease10
Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models10
Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots10
X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review10
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