Molecular Genetics and Metabolism Reports

Papers
(The H4-Index of Molecular Genetics and Metabolism Reports is 12. 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 2020-04-01 to 2024-04-01.)
ArticleCitations
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences20
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience18
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)18
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database16
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort16
Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls15
Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course15
SLC35A2-CDG: Novel variant and review13
Strategies to engage lost to follow-up patients with phenylketonuria in the United States: Best practice recommendations13
Body fat percentage in adolescents with phenylketonuria and associated factors13
First 1.5 years of pegvaliase clinic: Experiences and outcomes13
Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh1013
Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet12
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