Conjugated hyperbilirubinemia in infancy (mitochondrial DNA depletion syndrome, liver)

被引：1

作者：

Dimmick, J

机构：

[1] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 2B5, Canada

[2] British Columbia Childrens & Womens Hosp, Vancouver, BC V6T 2B5, Canada

来源：

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY | 2004年 / 7卷 / 06期

关键词：

D O I：

10.1007/s10024-004-5052-3

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

[No abstract available]

引用

页码：625 / 628

页数：4

共 15 条

[1] Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures [J].

Blake, JC ;

Taanman, JW ;

Morris, AMM ;

Gray, RGF ;

Cooper, JM ;

McKiernan, PJ ;

Leonard, JV ;

Schapira, AHV .

AMERICAN JOURNAL OF PATHOLOGY, 1999, 155 (01) :67-70

[2] Changes in mitochondrial DNA as a marker of nucleoside toxicity in HIV-infected patients [J].

Coté, HCF ;

Brumme, ZL ;

Craib, KJP ;

Alexander, CS ;

Wynhoven, B ;

Ting, LL ;

Wong, H ;

Harris, M ;

Harrigan, PR ;

O'Shaughnessy, MV ;

Montaner, JSG .

NEW ENGLAND JOURNAL OF MEDICINE, 2002, 346 (11) :811-820

[3] Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis [J].

Ducluzeau, PH ;

Lachaux, A ;

Bouvier, R ;

Streichenberger, N ;

Stepien, G ;

Mousson, B .

JOURNAL OF HEPATOLOGY, 1999, 30 (01) :149-155

[4] The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA [J].

Mandel, H ;

Szargel, R ;

Labay, V ;

Elpeleg, O ;

Saada, A ;

Shalata, A ;

Anbinder, Y ;

Berkowitz, D ;

Hartman, C ;

Barak, M ;

Eriksson, S ;

Cohen, N .

NATURE GENETICS, 2001, 29 (03) :337-341

[5] FATAL INFANTILE LIVER-FAILURE ASSOCIATED WITH MITOCHONDRIAL-DNA DEPLETION [J].

MAZZIOTTA, MRM ;

RICCI, E ;

BERTINI, E ;

VICI, CD ;

SERVIDEI, S ;

BURLINA, AB ;

SABETTA, G ;

BARTULI, A ;

MANFREDI, G ;

SILVESTRI, G ;

MORAES, CT ;

DIMAURO, S .

JOURNAL OF PEDIATRICS, 1992, 121 (06) :896-901

[6]

MIERAU GW, 2004, IN PRESS PEDIAT DEV, V7

[7]

MORAES CT, 1991, AM J HUM GENET, V48, P492

[8] Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis [J].

Müller-Höcker, J ;

Muntau, A ;

Schäfer, S ;

Jaksch, M ;

Staudt, F ;

Pongratz, D ;

Taanman, JW .

HUMAN PATHOLOGY, 2002, 33 (02) :247-253

[9] DEFICIENCY OF THE HUMAN MITOCHONDRIAL TRANSCRIPTION FACTOR H-MTTFA IN INFANTILE MITOCHONDRIAL MYOPATHY IS ASSOCIATED WITH MTDNA DEPLETION [J].

POULTON, J ;

MORTEN, K ;

FREEMANEMMERSON, C ;

POTTER, C ;

SEWRY, C ;

DUBOWITZ, V ;

KIDD, H ;

STEPHENSON, J ;

WHITEHOUSE, W ;

HANSEN, FJ ;

PARISI, M ;

BROWN, G .

HUMAN MOLECULAR GENETICS, 1994, 3 (10) :1763-1769

[10] Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy [J].

Saada, A ;

Shaag, A ;

Mandel, H ;

Nevo, Y ;

Eriksson, S ;

Elpeleg, O .

NATURE GENETICS, 2001, 29 (03) :342-344

← 1 2 →