Molecular Genetics and Metabolism
Overview
Molecular Genetics and Metabolism is a peer-reviewed journal that focuses on the molecular basis of genetic disorders and metabolic diseases. It publishes original research articles, reviews, and case reports, covering topics such as gene expression, genetic testing, enzyme deficiencies, and therapeutic approaches. The journal serves as a valuable resource for researchers, clinicians, and students interested in understanding the intricate relationship between genetics and metabolism.
Details
Details
Abbr.
Mol Genet Metab
Start
1998
End
Continuing
Frequency
Monthly
p-ISSN
1096-7192
e-ISSN
1096-7206
Country
United States
Language
English
Specialty
Endocrinology
Metrics
Metrics
h-index / Ranks: 2146
123
SJR / Ranks: 3252
1095
CiteScore / Ranks: 3323
6.50
JIF / Ranks: 2461
3.8
Recent Articles
1.
Drelichman G, Politei J, Fernandez Escobar N, Soberon B, Basack N, Guelbert N, et al.
Mol Genet Metab
. 2025 Mar;
145(1):109076.
PMID: 40086250
With over 25 years of experience, enzyme replacement therapies have proven to be safe and effective for patients with Fabry, Gaucher, Pompe, Mucopolysaccharidosis I (MPS I) diseases. As with many...
2.
van Karnebeek C, Muller A, Benkemoun L, Boussaad I, Cornel M, IntHout J, et al.
Mol Genet Metab
. 2025 Mar;
144(4):109073.
PMID: 40086177
Rare diseases affect over 400 million people worldwide, with approved treatment available for less than 6 % of these diseases. Drug repurposing is a key strategy in the development of...
3.
Breilyn M, Simpson K, Elsbecker S, Barber J, Bryan K, Berry S
Mol Genet Metab
. 2025 Mar;
144(4):109083.
PMID: 40081191
Introduction: Ornithine transcarbamylase deficiency (OTCD, MIM: 311250) is an X-linked disorder of ureagenesis caused by pathogenic variants in OTC (MIM: 300461). Due to varying X-inactivation patterns, female heterozygotes can range...
4.
George K, Anding A, van der Flier A, Tomassy G, Berger K, Zhang T, et al.
Mol Genet Metab
. 2025 Mar;
:109078.
PMID: 40069077
No abstract available.
5.
Pereira B, Barbosa M, Granjo P, Lochmuller H, Videira P
Mol Genet Metab
. 2025 Mar;
144(4):109075.
PMID: 40054019
Defects in sialic acid metabolism disrupt the sialylation of glycoproteins and glycolipids, contributing to a spectrum of diseases, including GNE myopathy (GNEM). This rare disorder is caused by mutations in...
6.
Ertas K, Gul O, Bozaci A, Bilgin H
Mol Genet Metab
. 2025 Mar;
144(4):109069.
PMID: 40048913
Aim: In mucopolysaccharidosis (MPS) disease, glycosaminoglycan (GAG) accumulates in the cardiovascular system and creates clinical conditions. Our aim in the study is to analyze the cardiac functions of MPS patients...
7.
Gregor A, Delerive P, Cuenoud B, Monnard I, Redeuil K, Harding C, et al.
Mol Genet Metab
. 2025 Mar;
144(4):109070.
PMID: 40048912
Patients with long-chain fatty acid oxidation disorders (LC-FAOD) have impaired endogenous ketone production due to defects in the beta-oxidation pathway. We explored supplementation of exogenous D-beta-hydroxybutyrate (D-BHB) as an alternative...
8.
Rodrigues C, Sousa Barbosa C, de Almeida M, Bandeira A, Martins E, Rocha S, et al.
Mol Genet Metab
. 2025 Mar;
144(4):109068.
PMID: 40037212
Background: Overweight has been identified as a comorbidity associated with phenylketonuria (PKU). A systematic review with meta-analysis found that although patients with PKU had a similar body mass index (BMI)...
9.
Langeveld M, Balfoort B, Wortmann S
Mol Genet Metab
. 2025 Mar;
144(4):109057.
PMID: 40024065
No abstract available.
10.
Demczko M, Ganetzky R, Tormey C, Ku B, Blowey B, Lavelle J, et al.
Mol Genet Metab
. 2025 Feb;
144(4):109058.
PMID: 40020324
Primary mitochondrial diseases (PMD) are an increasingly recognized cause of multi-system organ dysfunction. Children frequently require acute care in an inpatient setting, though many hospitals do not have access to...