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Retrospective diagnosis of carnitine‐acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
Author(s) -
Brivet M.,
Slama A.,
Millington D. S.,
Roe C. R.,
Demaugre F.,
Legrand A.,
Boutron A.,
Poggi F.,
Saudubray J. M.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799424
Subject(s) - hum , proband , medicine , genetics , biology , mutation , history , gene , performance art , art history
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