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New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches

Ryder, B; Inbar-Feigenberg, M; Glamuzina, E; Halligan, R; Vara, R; Elliot, A; Coman, D; Minto, T; Lewis, K; Schiff, M; Vijay, S; Akroyd, R; Thompson, S; MacDonald, A; Woodward, AJM; Gribben, JEL; Grunewald, S; Belaramani, K; Hall, M; Haak, N; Devanapalli, B; Tolun, AA; Wilson, C; Bhattacharya, K

Ryder, B (corresponding author), Starship Childrens Hosp, Natl Metab Serv, Auckland, New Zealand.

JOURNAL OF INHERITED METABOLIC DISEASE, 2021; 44 (4): 903

Abstract

Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most ......

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