Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

M Brivet; A Slama; D S Millington; C R Roe; F Demaugre; A Legrand; A Boutron; F Poggi; J M Saudubray

doi:10.1007/BF01799424

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Identifier:nobleid.org/w1/20260515/7DF53675

Type:Journal Article

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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.

Identifier:nobleid.org/w1/20260515/7DF53675

Type:Journal Article

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