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 2021-04-01 to 2025-04-01.)
ArticleCitations
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis18
Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations18
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus16
The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland14
Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.13
Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries11
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 hyperammonemia11
Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency11
A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder11
Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction10
A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity10
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response10
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms10
A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy10
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