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
收藏
页码：1 / 2
页数：2
相关论文
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?
    Cecil, KM
    Salomons, GS
    Ball, WS
    Wong, B
    Chuck, G
    Verhoeven, NM
    Jakobs, C
    DeGrauw, TJ
    [J]. ANNALS OF NEUROLOGY, 2001, 49 (03) : 401 - 404
  • [3] Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
    de Koning, TJ
    Jaeken, J
    Pineda, M
    Van Maldergem, L
    Poll-The, BT
    van der Knaap, MS
    [J]. NEUROPEDIATRICS, 2000, 31 (06) : 287 - 292
  • [4] Arginine:glycine amidinotransferase deficiency:: The third inborn error of creatine metabolism in humans
    Item, CB
    Stöckler-Ipsiroglu, S
    Stromberger, C
    Mühl, A
    Alessandrì, MG
    Bianchi, MC
    Tosetti, M
    Fornai, F
    Cioni, G
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (05) : 1127 - 1133
  • [5] Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
    Leuzzi, V
    Bianchi, MC
    Tosetti, M
    Carducci, C
    Cerquiglini, A
    Cioni, G
    Antonozzi, I
    [J]. 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
    Pietz, J
    Kreis, R
    Schmidt, H
    MeydingLamade, UK
    Rupp, A
    Boesch, C
    [J]. RADIOLOGY, 1996, 201 (02) : 413 - 420
1