HOMOCYSTINURIA - A NEW INBORN ERROR OF METABOLISM ASSOCIATED WITH MENTAL DEFICIENCY

被引：216
|
作者：
CARSON, NAJ
DENT, CE
FIELD, CMB
NEILL, DW
WESTALL, RG
CUSWORTH, DC
机构：
来源：
ARCHIVES OF DISEASE IN CHILDHOOD | 1963年 / 38卷 / 201期
关键词：
D O I：
10.1136/adc.38.201.425
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：425 / +
页数：1
相关论文
共 50 条
  • [41] Transaldolase deficiency: Liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
    Verhoeven, NM
    Huck, JHJ
    Roos, B
    Struys, EA
    Salomons, GS
    Douwes, AC
    van der Knaap, MS
    Jakobs, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (05) : 1086 - 1092
  • [42] An infant with profound anemia: A vitamin deficiency masquerading as an inborn error of metabolism
    Morrison, Monique
    Cao, Jing
    Jones, Patricia M.
    CLINICA CHIMICA ACTA, 2023, 544
  • [43] HUMAN GLYCEROL KINASE-DEFICIENCY - AN INBORN ERROR OF COMPARTMENTAL METABOLISM
    MCCABE, ERB
    BIOCHEMICAL MEDICINE, 1983, 30 (02): : 215 - 230
  • [44] Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
    Banka, Siddharth
    Blom, Henk J.
    Walter, John
    Aziz, Majid
    Urquhart, Jill
    Clouthier, Christopher M.
    Rice, Gillian I.
    de Brouwer, Arjan P. M.
    Hilton, Emma
    Vassallo, Grace
    Will, Andrew
    Smith, Desiree E. C.
    Smulders, Yvo M.
    Wevers, Ron A.
    Steinfeld, Robert
    Heales, Simon
    Crow, Yanick J.
    Pelletier, Joelle N.
    Jones, Simon
    Newman, William G.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (02) : 216 - 225
  • [45] Guanidinoacetate methyltransferase (GAMT) deficiency, the first inborn error of creatine metabolism
    Stöckler-Ipsiroglu, S
    CREATINE: FROM BASIC SCIENCE TO CLINICAL APPLICATION, 2000, 14 : 11 - 16
  • [46] COMBINED IMMUNODEFICIENCY DISEASE AND ADENOSINE DEAMINASE DEFICIENCY AN INBORN ERROR OF METABOLISM
    POLLARA, B
    PICKERING, RJ
    MEUWISSEN, HJ
    PEDIATRIC RESEARCH, 1973, 7 (04) : 362 - 362
  • [47] NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
    Engelke, Udo F. H.
    Sass, Joern Oliver
    Van Coster, Rudy N.
    Gerlo, Erik
    Olbrich, Heike
    Krywawych, Stefan
    Calvin, Jacqui
    Hart, Claire
    Omrans, Heymut
    Wevers, Ron A.
    NMR IN BIOMEDICINE, 2008, 21 (02) : 138 - 147
  • [48] Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man
    Stockler, S
    Isbrandt, D
    Hanefeld, F
    Schmidt, B
    vonFigura, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 58 (05) : 914 - 922
  • [49] GALACTOSAEMIC INFANT WITH A POSSIBLE NEW INBORN ERROR OF METABOLISM
    BEVAN, BR
    HOLTON, JB
    JOURNAL OF CLINICAL PATHOLOGY, 1964, 17 (04) : 471 - &
  • [50] MOLYBDENUM COFACTOR DEFICIENCY - ANOTHER INBORN ERROR OF METABOLISM WITH NEONATAL ONSET
    MATSUO, M
    MAEDA, E
    NAKAMURA, H
    SAIKI, K
    PEDIATRICS, 1988, 82 (03) : 521 - 521
12345