Associated Papers
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China.
Zhou D et al.
Frontiers in Genetics, 2022
One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.
Li X et al.
Frontiers in Pediatrics, 2022
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China.
Tang C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Violante S et al.
Biochimica Et Biophysica Acta, 2013
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Violante S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH et al.
Molecular Genetics and Metabolism, 2006
Functional and structural role of amino acid residues in the even-numbered transmembrane alpha-helices of the bovine mitochondrial oxoglutarate carrier.
Cappello AR et al.
Journal of Molecular Biology, 2006
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.
IJlst L et al.
Biochemical and Biophysical Research Communications, 2001
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.
Rubio-Gozalbo ME et al.
Molecular Aspects of Medicine, 0
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