Introduction - Genetics of mental retardation

被引：8

作者：

Battaglia, A

机构：

[1] Univ Pisa, Div Pediat Neurol & Psychiat, Dept Procreat Med & Pediat, I-56100 Pisa, Italy

[2] Univ Utah, Ctr Hlth Sci, Div Med Genet, Dept Pediat, Salt Lake City, UT 84112 USA

[3] Stella Maris Clin Res Inst Child & Adolescent Neu, I-56018 Calambrone, Pisa, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2003年 / 117C卷 / 01期

关键词：

D O I：

10.1002/ajmg.c.10014

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1 / 2

页数：2

共 8 条

[1]

Bianchi MC, 2000, ANN NEUROL, V47, P511

[2] Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? [J].

Cecil, KM ;

Salomons, GS ;

Ball, WS ;

Wong, B ;

Chuck, G ;

Verhoeven, NM ;

Jakobs, C ;

DeGrauw, TJ .

ANNALS OF NEUROLOGY, 2001, 49 (03) :401-404

[3] Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency [J].

de Koning, TJ ;

Jaeken, J ;

Pineda, M ;

Van Maldergem, L ;

Poll-The, BT ;

van der Knaap, MS .

NEUROPEDIATRICS, 2000, 31 (06) :287-292

[4] Arginine:glycine amidinotransferase deficiency:: The third inborn error of creatine metabolism in humans [J].

Item, CB ;

Stöckler-Ipsiroglu, S ;

Stromberger, C ;

Mühl, A ;

Alessandrì, MG ;

Bianchi, MC ;

Tosetti, M ;

Fornai, F ;

Cioni, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) :1127-1133

[5] Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) [J].

Leuzzi, V ;

Bianchi, MC ;

Tosetti, M ;

Carducci, C ;

Cerquiglini, A ;

Cioni, G ;

Antonozzi, I .

NEUROLOGY, 2000, 55 (09) :1407-1409

[6]

Neri G, 2000, AM J MED GENET, V97, P173, DOI 10.1002/1096-8628(200023)97:3<173::AID-AJMG1033>3.0.CO

[7]

2-A

[8] Phenylketonuria: Findings at MR imaging and localized in vivo H-1 MR spectroscopy of the brain in patients with early treatment [J].

Pietz, J ;

Kreis, R ;

Schmidt, H ;

MeydingLamade, UK ;

Rupp, A ;

Boesch, C .

RADIOLOGY, 1996, 201 (02) :413-420

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