3-methylglutaconic aciduria disorders - The clinical spectrum increases

被引：5

作者：

Arn, P

Funanage, VL

机构：

[1] Aldred I DuPont Hosp Children, Nemours Biomed Res, Wilmington, DE 19803 USA

[2] Nemours Childrens Clin, Div Genet, Jacksonville, FL USA

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2006年 / 28卷 / 02期

关键词：

D O I：

10.1097/01.mph.0000199602.35010.89

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

引用

页码：62 / 63

页数：2

共 11 条

[1]

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome):: Identification of the OPA3 gene and its founder mutation in Iraqi Jews [J].

Anikster, Y ;

Kleta, R ;

Shaag, A ;

Gahl, WA ;

Elpeleg, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1218-1224

[2]

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update [J].

Barth, PG ;

Valianpour, F ;

Bowen, VM ;

Lam, J ;

Duran, M ;

Vaz, FM ;

Wanders, RJA .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 126A (04) :349-354

[3]

A novel X-linked gene, G4.5. is responsible for Barth syndrome [J].

Bione, S ;

DAdamo, P ;

Maestrini, E ;

Gedeon, AK ;

Bolhuis, PA ;

Toniolo, D .

NATURE GENETICS, 1996, 12 (04) :385-389

[4]

DAVEY KM, 2005, J MED GENET

[5]

MULTIPLE SYNDROMES OF 3-METHYLGLUTACONIC ACIDURIA [J].

GIBSON, KM ;

ELPELEG, ON ;

JAKOBS, C ;

COSTEFF, H ;

KELLEY, RI .

PEDIATRIC NEUROLOGY, 1993, 9 (02) :120-123

[6]

PHENOTYPIC HETEROGENEITY IN THE SYNDROMES OF 3-METHYLGLUTACONIC ACIDURIA [J].

GIBSON, KM ;

SHERWOOD, WG ;

HOFFMANN, GF ;

STUMPF, DA ;

DIANZANI, I ;

SCHUTGENS, RBH ;

BARTH, PG ;

WEISMANN, U ;

BACHMANN, C ;

SCHRYNEMACKERSPITANCE, P ;

VERLOES, A ;

NARISAWA, K ;

MINO, M ;

OHYA, N ;

KELLEY, RI .

JOURNAL OF PEDIATRICS, 1991, 118 (06) :885-890

[7]

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency [J].

Gibson, KM ;

Wappner, RS ;

Jooste, S ;

Erasmus, E ;

Mienie, LJ ;

Gerlo, E ;

Desprechins, B ;

De Meirleir, L .

JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (06) :631-638

[8]

3-methylglutaconic aciduria: A common biochemical marker in various syndromes with diverse clinical features [J].

Gunay-Aygun, M .

MOLECULAR GENETICS AND METABOLISM, 2005, 84 (01) :1-3

[9]

3-methylglutaconic aciduria type I is caused by mutations in AUH [J].

Ijlst, L ;

Loupatty, FJ ;

Ruiter, JPN ;

Duran, M ;

Lehnert, W ;

Wanders, RJA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (06) :1463-1466

[10]

Mutation characterization and genotype-phenotype correlation in Barth syndrome [J].

Johnston, J ;

Kelley, RI ;

Feigenbaum, A ;

Cox, GF ;

Iyer, GS ;

Funanage, VL ;

Proujansky, R .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (05) :1053-1058

← 1 2 →