Blood uric acid as a pointer to the diagnosis of molybdenum cofactor deficiency

被引:6
作者
Coskun, T [1 ]
Yetük, M [1 ]
Yurdakök, M [1 ]
Tekinalp, G [1 ]
机构
[1] Hacettepe Univ Hosp, Dept Paediat, Div Paediat Nutr & Metab, TR-06100 Ankara, Turkey
关键词
D O I
10.1080/080352598750014229
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:714 / 715
页数:2
相关论文
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  • [1] MOLYBDENUM COFACTOR DEFICIENCY
    ARNOLD, GL
    GREENE, CL
    STOUT, JP
    GOODMAN, SI
    [J]. JOURNAL OF PEDIATRICS, 1993, 123 (04) : 595 - 598
  • [2] ANTENATAL DIAGNOSIS OF MOLYBDENUM COFACTOR DEFICIENCY
    GRAY, RGF
    GREEN, A
    BASU, SN
    CONSTANTINE, G
    CONDIE, RG
    DORCHE, C
    VIANEYLIAUD, C
    DESJACQUES, P
    [J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1990, 163 (04) : 1203 - 1204
  • [3] MOLYBDENUM COFACTOR DEFICIENCY IN 2 SIBLINGS - DIAGNOSTIC DIFFICULTIES
    HANSEN, LK
    WULFF, K
    DORCHE, C
    CHRISTENSEN, E
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1993, 152 (08) : 662 - 664
  • [4] PRENATAL-DIAGNOSIS OF MOLYBDENUM COFACTOR DEFICIENCY BY ASSAY OF SULFITE OXIDASE ACTIVITY IN CHORIONIC VILLUS SAMPLES
    JOHNSON, JL
    RAJAGOPALAN, KV
    LANMAN, JT
    SCHUTGENS, RBH
    VANGENNIP, AH
    SORENSEN, P
    APPLEGARTH, DA
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (06) : 932 - 937
  • [5] DEFECTIVE MOLYBDOPTERIN BIOSYNTHESIS - CLINICAL HETEROGENEITY ASSOCIATED WITH MOLYBDENUM COFACTOR DEFICIENCY
    MIZE, C
    JOHNSON, JL
    RAJAGOPALAN, KV
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (03) : 283 - 290
  • [6] THE DETECTION OF MOLYBDENUM COFACTOR DEFICIENCY - CLINICAL SYMPTOMATOLOGY AND URINARY METABOLITE PROFILE
    VANGENNIP, AH
    ABELING, NGGM
    STROOMER, AEM
    OVERMARS, H
    BAKKER, HD
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1994, 17 (01) : 142 - 145