Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

被引：17

作者：

Costa, C ^{[1
]}

Costa, JM

Nuoffer, JM

Slama, A

Boutron, A

Saudubray, JM

Legrand, A

Brivet, M

机构：

[1] AP HP Hosp Bicetre, Biochem Lab, Le Kremlin Bicetre, France

[2] Amer Hosp Paris, Lab Prenatal Diag, Neuilly, France

[3] AP HP Hosp Necker, Dept Clin Genet, Paris, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 03期

关键词：

D O I：

10.1023/A:1005590223680

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：267 / 270

页数：4

共 4 条

[1] Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient [J].

Huizing, M ;

Iacobazzi, V ;

Ijlst, L ;

Savelkoul, P ;

Ruitenbeek, W ;

van den Heuvel, L ;

Indiveri, C ;

Smeitink, J ;

Trijbels, F ;

Wanders, R ;

Palmieri, F .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) :1239-1245

[2] Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient [J].

Huizing, M ;

Wendel, U ;

Ruitenbeek, W ;

Iacobazzi, V ;

Ijlst, L ;

Veenhuizen, P ;

Savelkoul, P ;

van den Heuvel, LP ;

Smeitink, JAM ;

Wanders, RJA ;

Trijbels, JMF ;

Palmieri, F .

JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (03) :262-267

[3] The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins [J].

Indiveri, C ;

Iacobazzi, V ;

Giangregorio, N ;

Palmieri, F .

BIOCHEMICAL JOURNAL, 1997, 321 :713-719

[4] Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization [J].

Viggiano, L ;

Iacobazzi, V ;

Marzella, R ;

Cassano, C ;

Rocchi, M ;

Palmieri, F .

CYTOGENETICS AND CELL GENETICS, 1997, 79 (1-2) :62-63

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