Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation

被引：20

作者：

Yamak, A. A.

Bitar, F.

Karam, P.

Nemer, G.

机构：

[1] Amer Univ Beirut, Dept Biochem, Beirut, Lebanon

[2] Amer Univ Beirut, Dept Pediat, Beirut, Lebanon

来源：

CLINICAL GENETICS | 2007年 / 72卷 / 01期

关键词：

D O I：

10.1111/j.1399-0004.2007.00814.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：59 / 62

页数：4

共 18 条

[1]

Bitar Fadi F., 1999, Middle East Journal of Anesthesiology, V15, P159

[2] Carnitine palmitoyltransferase deficiencies [J].

Bonnefont, JP ;

Demaugre, F ;

Prip-Buus, C ;

Saudubray, JM ;

Brivet, M ;

Abadi, N ;

Thuillier, L .

MOLECULAR GENETICS AND METABOLISM, 1999, 68 (04) :424-440

[3] Defects in activation and transport of fatty acids [J].

Brivet, M ;

Boutron, A ;

Slama, A ;

Costa, C ;

Thuillier, L ;

Demaugre, F ;

Rabier, D ;

Saudubray, JM ;

Bonnefont, JP .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) :428-441

[4] Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality [J].

Burwinkel, B ;

Kreuder, J ;

Schweitzer, S ;

Vorgerd, M ;

Gempel, K ;

Gerbitz, KD ;

Kilimann, MW .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1999, 261 (02) :484-487

[5] Carnitine transport by organic cation transporters and systemic carnitine deficiency [J].

Lahjouji, K ;

Mitchell, GA ;

Qureshi, IA .

MOLECULAR GENETICS AND METABOLISM, 2001, 73 (04) :287-297

[6] OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation? [J].

Lamhonwah, AM ;

Onizuka, R ;

Olpin, SE ;

Muntoni, F ;

Tein, I .

JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (04) :473-476

[7] Novel OCTN2 mutations:: No genotype-phenotype correlations:: Early carnitine therapy prevents cardiomyopathy [J].

Lamhonwah, AM ;

Olpin, SE ;

Pollitt, RJ ;

Vianey-Saban, C ;

Divry, P ;

Guffon, N ;

Besley, GTN ;

Onizuka, R ;

De Meirleir, LJ ;

Cvitanovic-Sojat, L ;

Baric, I ;

Dionisi-Vici, C ;

Fumic, K ;

Maradin, M ;

Tein, I .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 111 (03) :271-284

[8]

Mayatepek E, 2000, Hum Mutat, V15, P118, DOI 10.1002/(SICI)1098-1004(200001)15:1<118::AID-HUMU28>3.0.CO

[9]

2-8

[10] Phenotypic manifestations of the OCTN2 V295X mutation:: Sudden infant death and carnitine-responsive cardiomyopathy in Roma families [J].

Melegh, B ;

Bene, J ;

Mogyorósy, G ;

Havasi, V ;

Komlósi, K ;

Pajor, L ;

Oláh, E ;

Kispál, G ;

Sumegi, B ;

Méhes, K .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 131A (02) :121-126

← 1 2 →