Associated Papers
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.
Kheirandish A et al.
Gastroenterology and Hepatology From Bed to Bench, 2024
Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
Meinhardt B et al.
International Journal of Molecular Sciences, 2021
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
Lehmann D et al.
International Journal of Molecular Sciences, 2017
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
Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.
Lehmann D et al.
Journal of the Neurological Sciences, 2014
Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
Joshi PR et al.
Journal of the Neurological Sciences, 2014
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
Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
Wieser T et al.
Neurology, 2003
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT et al.
Human Mutation, 1999
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