Complex I deficiency in association with structural abnormalities of the diaphragm and brain

被引：5

作者：

Ellaway, C

North, K

Arbuckle, S

Christodoulou, J

机构：

[1] Royal Alexandra Hosp Children, Western Sydney Genet Program, Parramatta, NSW 2124, Australia

[2] Royal Alexandra Hosp Children, Neurogenet Res Unit, Parramatta, NSW 2124, Australia

[3] Royal Alexandra Hosp Children, Dept Pathol, Parramatta, NSW 2124, Australia

[4] Univ Sydney, Dept Paediat & Child Hlth, Sydney, NSW 2006, Australia

来源：

关键词：

D O I：

10.1023/A:1005367515701

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：72 / 73

页数：2

共 5 条

[1] CormierDaire V, 1996, AM J MED GENET, V66, P457, DOI 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO
[2] 2-T
[3] Oxidative phosphorylation defect associated with primary adrenal insufficiency
North, K
Korson, MS
Krawiecki, N
Shoffner, JM
Holm, IA
[J]. JOURNAL OF PEDIATRICS, 1996, 128 (05) : 688 - 692
[4] Leigh syndrome: Clinical features and biochemical and DNA abnormalities
Rahman, S
Blok, RB
Dahl, HHM
Danks, DM
Kirby, DM
Chow, CW
Christodoulou, J
Thorburn, DR
[J]. ANNALS OF NEUROLOGY, 1996, 39 (03) : 343 - 351
[5] SHOFFNER JM, 1995, METABOLIC MOL BASES, P1535