Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Lu CH et al.
Molecular Genetics and Metabolism Reports, 2024
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
Shelihan I et al.
Jimd Reports, 2022
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Tal G et al.
Molecular Genetics and Metabolism, 2015
Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
Sigauke E et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L et al.
Human Mutation, 2003
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
Olpin SE et al.
Journal of Inherited Metabolic Disease, 2003
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