TY  - GEN
AU  - Brivet,M
AU  - Slama,A
AU  - Millington,D S
AU  - Roe,C R
AU  - Demaugre,F
AU  - Legrand,A
AU  - Boutron,A
AU  - Poggi,F
AU  - Saudubray,J M
TI  - Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
SN  - 0141-8955
PY  - 1996///1004
KW  - Acylation
KW  - Carnitine
KW  - analysis
KW  - Carnitine Acyltransferases
KW  - deficiency
KW  - Carnitine O-Palmitoyltransferase
KW  - metabolism
KW  - Female
KW  - Fibroblasts
KW  - enzymology
KW  - Humans
KW  - Infant
KW  - Intracellular Membranes
KW  - Lymphocytes
KW  - Male
KW  - Mitochondria
KW  - Retrospective Studies
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF01799424
ER  -