Molecular Genetics and Metabolism Reports
Overview
Molecular Genetics and Metabolism Reports is a scientific journal, published since 2013 in English. The journal's country of origin is United States and its primary focus area is endocrinology.
Details
Details
Abbr.
Mol Genet Metab Rep
Start
2013
End
Continuing
Frequency
Four issues a year, 2015-
e-ISSN
2214-4269
Country
United States
Language
English
Specialty
Endocrinology
Metrics
Metrics
h-index / Ranks: 10268
31
SJR / Ranks: 7044
639
CiteScore / Ranks: 7633
3.50
JIF / Ranks: 5372
1.9
Recent Articles
1.
Inagaki N, Takei Y, Hatano T, Takada Y, Yazaki Y, Kosuge H, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101196.
PMID: 39995634
Fabry disease (FD) is an X-linked lysosomal storage disease caused by mutations in , which encodes α-galactosidase A (GLA). The loss or reduced activity of GLA leads to damage to...
2.
Iijima H, Tsujioka Y, Tsutsumi Y, Nishimura G, Okazaki Y, Murayama K, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101198.
PMID: 39995633
Background: The human mitochondrial methionyl-tRNA is crucial for mitochondrial translation, serving as both initiator and elongator in polypeptide chains. The gene is responsible for binding methionine to mitochondrial tRNA. The...
3.
Nicolas M, Giret C, Pellieux S, Toutain A, Bergemer-Fouquet A, Laforet P, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101197.
PMID: 39981214
Glycogen storage disease type 5 (GSD) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the gene. We report the case of a patient with typical exercise intolerance...
4.
Jain M, Shah M, Thakker K, Rava A, Pelts Block A, Ndiba-Markey C, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101192.
PMID: 39927195
Background And Objectives: Classical homocystinuria (HCU) is a rare autosomal recessive disease that can affect multiple organ systems leading to increased health care resource utilization (HCRU) and costs. In this...
5.
Huang Y, Fang X, Ma L, Zhang J, Wang C, Gao T, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101193.
PMID: 39911746
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant connective tissue disorder caused by mutations in the fibrillin-2 ) gene, characterized by crumpled ears, arachnodactyly, camptodactyly, dolichostenomelia, large-joint contractures...
6.
Gragnaniello V, Gueraldi D, Saracini A, Velasquez Rivas D, Cazzorla C, Salviati L, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101187.
PMID: 39902270
Introduction: Gaucher disease is a lysosomal storage disease due to deficiency of glucocerebrosidase, leading to the accumulation of glucosylceramide, particularly in macrophages. In addition to storage, secondary abnormalities such as...
7.
El Fissi H, Bouzid F, Sebbar M, Serghini M, Msanda F, Alif N
Mol Genet Metab Rep
. 2025 Feb;
42:101186.
PMID: 39897474
Background: Mucopolysaccharidoses types I and IIIA are lysosomal storage diseases caused by mutations in the and genes, leading to deficiencies in α-L-iduronidase and heparan sulfamidase, respectively. These progressive, autosomal recessive...
8.
Yeo M, Rehsi P, Yeo J, Dixon M, Chakrapani A
Mol Genet Metab Rep
. 2025 Feb;
42:101190.
PMID: 39897473
Branched-chain amino acids (BCAAs) are important for normal growth, development, and function. In urea cycle disorders (UCDs), plasma BCAA levels can be relatively low; this has been attributed variously to...
9.
Church Smith C, Roy A, Steeds S, Tuzcuoglu N, Wingrove C, Aitchison K, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101194.
PMID: 39897472
Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD...
10.
Menkovic I, Williams M, Makhijani N, Wei R, Young S, El-Gharbawy A, et al.
Mol Genet Metab Rep
. 2025 Feb;
42:101191.
PMID: 39897471
-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS...