Molecular Genetics and Metabolism Reports

Papers
(The H4-Index of Molecular Genetics and Metabolism Reports is 9. 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 2020-11-01 to 2024-11-01.)
ArticleCitations
SLC35A2-CDG: Novel variant and review14
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease13
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options13
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database13
Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease10
Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase10
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects10
L-Fucose treatment of FUT8-CDG10
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy9
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy9
Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy9
Newborn screening for Pompe disease in Italy: Long-term results and future challenges9
High frequency of biotinidase deficiency in Italian population identified by newborn screening9
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency9
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