High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

被引：77

作者：

Lion-Francois, L.

Cheillan, D.

Pitelet, G.

Acquaviva-Bourdain, C.

Bussy, G.

Cotton, F.

Guibaud, L.

Gerard, D.

Rivier, C.

Vianey-Saban, C.

Jakobs, C.

Salomons, G. S.

Portes, V. des

机构：

[1] Hop Debrousse, Serv Neurol Pediat, F-69005 Lyon, France

[2] Hop Debrousse, Serv Biochim Pediat, F-69005 Lyon, France

[3] Hop Debrousse, Serv Radiol, F-69005 Lyon, France

[4] Hosp Civils Lyon Sud, Lyon, France

[5] Ctr Hosp Lyon Sud, Serv Radiol Pediat, Lyon, France

[6] VU Univ, Dept Clin Chem, Metab Unit, Med Ctr, Amsterdam, Netherlands

来源：

NEUROLOGY | 2006年 / 67卷 / 09期

关键词：

D O I：

10.1212/01.wnl.0000239153.39710.81

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：1713 / 1714

页数：2

共 7 条

[1] Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation [J].

Araújo, HC ;

Smit, W ;

Verhoeven, NM ;

Salomons, GS ;

Silva, S ;

Vasconcelos, R ;

Tomás, H ;

de Almeida, IT ;

Jakobs, C ;

Duran, M .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 133A (02) :122-127

[2] X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology [J].

Clark, Amy J. ;

Rosenberg, Efraim H. ;

Almeida, Ligia S. ;

Wood, Tim C. ;

Jakobs, Cornelis ;

Stevenson, Roger E. ;

Schwartz, Charles E. ;

Salomons, Gajja S. .

HUMAN GENETICS, 2006, 119 (06) :604-610

[3] Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry [J].

Cognat, SB ;

Cheillan, D ;

Piraud, M ;

Roos, B ;

Jakobs, C ;

Viany-Saban, C .

CLINICAL CHEMISTRY, 2004, 50 (08) :1459-1461

[4] The clinical syndrome of creatine transporter deficiency [J].

deGrauw, TJ ;

Cecil, KM ;

Byars, AW ;

Salomons, GS ;

Ball, WS ;

Jakobs, C .

MOLECULAR AND CELLULAR BIOCHEMISTRY, 2003, 244 (01) :45-48

[5] Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated dutch families [J].

Mancini, GMS ;

Catsman-Berrevoets, CE ;

de Coo, IFM ;

Aarsen, FK ;

Kamphoven, JHJ ;

Huijmans, JG ;

Duran, M ;

van der Knaap, MS ;

Jakobs, C ;

Salomons, GS .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) :288-295

[6] High prevalence of SLC6A8 deficiency in X-linked mental retardation [J].

Rosenberg, EH ;

Almeida, LS ;

Kleefstra, T ;

deGrauw, RS ;

Yntema, HG ;

Bahi, N ;

Moraine, C ;

Ropers, HH ;

Fryns, JP ;

deGrauw, TJ ;

Jakobs, C ;

Salomons, GS .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (01) :97-105

[7] Creatine deficiency syndromes [J].

Schulze, A .

MOLECULAR AND CELLULAR BIOCHEMISTRY, 2003, 244 (01) :143-150

← 1 →