Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach

Crefcoeur, LL; Visser, G; Ferdinandusse, S; Wijburg, FA; Langeveld, M; Sjouke, B

Sjouke, B (通讯作者)，Amsterdam UMC Locat Acad Med Ctr, Dept Endocrinol & Metab, Meibergdreef 9,Room F5-169,POB 22660, NL-1100 DD Amsterdam, Netherlands.

JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3): 386

Abstract

A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diag......

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