HEREDITARY XANTHINURIA PRESENTING IN INFANCY WITH NEPHROLITHIASIS

被引:19
|
作者
CARPENTER, TO
LEBOWITZ, RL
NELSON, D
BAUER, S
机构
[1] CHILDRENS HOSP MED CTR, DEPT MED ENDOCRINOL, BOSTON, MA 02115 USA
[2] CHILDRENS HOSP MED CTR, DEPT RADIOL, BOSTON, MA 02115 USA
[3] CHILDRENS HOSP MED CTR, DEPT SURG UROL, BOSTON, MA 02115 USA
[4] HARVARD UNIV, SCH MED, DEPT PEDIAT, BOSTON, MA 02115 USA
[5] HARVARD UNIV, SCH MED, DEPT SURG, BOSTON, MA 02115 USA
[6] HARVARD UNIV, SCH MED, DEPT RADIOL, BOSTON, MA 02115 USA
[7] BURROUGHS WELLCOME CO, DEPT EXPTL THERAPEUT, RES TRIANGLE PK, NC 27709 USA
来源
JOURNAL OF PEDIATRICS | 1986年 / 109卷 / 02期
关键词
D O I
10.1016/S0022-3476(86)80391-2
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:307 / 309
页数:3
相关论文
共 50 条
  • [21] HEREDITARY XANTHINURIA AND EHLERS-DANLOS SYNDROME
    ROCA, B
    CALABUIG, C
    SASTRE, J
    ARENAS, M
    JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) : 881 - 882
  • [22] HEREDITARY XANTHINURIA AND XANTHINE UROLITHIASIS - ADDITIONAL 3 CASES
    FRAYHA, RA
    SALTI, IS
    HAIDAR, GIA
    ALKHALID.U
    HEMADY, K
    JOURNAL OF UROLOGY, 1973, 109 (05): : 871 - 873
  • [23] A Pial Arteriovenous Fistula in Infancy as the Presenting Manifestation of Hereditary Hemorrhagic Telangiectasia
    Okazaki, Takahito
    Sakamoto, Shigeyuki
    Ishii, Daizo
    Oshita, Jumpei
    Matsushige, Toshinori
    Shinagawa, Katsuhiro
    Ichinose, Nobuhiko
    Matsuda, Shingo
    Kurisu, Kaoru
    WORLD NEUROSURGERY, 2019, 122 : 322 - 325
  • [24] STUDIES ON THE METABOLISM OF PYRAZINAMIDE AND ALLOPURINOL IN PATIENTS WITH HEREDITARY XANTHINURIA
    HIGASHINO, K
    YAMAMOTO, T
    HADA, T
    KONO, N
    KAWACHI, M
    NANAHOSHI, M
    TAKAHASHI, S
    SUDA, M
    NAKA, M
    PEDIATRIC RESEARCH, 1988, 24 (01) : 120 - 120
  • [25] THIAZIDES DO NOT AFFECT XANTHINE EXCRETION IN HEREDITARY XANTHINURIA
    SALTI, IS
    HEMADY, K
    CLINICAL CHEMISTRY, 1980, 26 (06) : 793 - 794
  • [26] Hereditary xanthinuria is not so rare disorder of purine metabolism
    Sebesta, I.
    Stiburkova, B.
    Krijt, J.
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2018, 37 (06): : 324 - 328
  • [27] Mutations in xanthine dehydrogenase gene in subjects with hereditary xanthinuria
    Ichida, K
    Kamatani, N
    Nishino, T
    Saji, M
    Okabe, H
    Hosoya, T
    PURINE AND PYRIMIDINE METABOLISM IN MAN IX, 1998, 431 : 327 - 330
  • [28] EFFECT OF FRUCTOSE INFUSION IN HEREDITARY XANTHINURIA - EVIDENCE FOR GTP DEGRADATION
    MATEOS, FA
    PUIG, JG
    RAMOS, TH
    FOX, IH
    PEDIATRIC RESEARCH, 1985, 19 (07) : 765 - 765
  • [29] HEREDITARY XANTHINURIA - REPORT ON 3 PATIENTS AND SHORT REVIEW OF LITERATURE
    FRAYHA, RA
    SALTI, IS
    ARNAOUT, A
    KHATCHADURIAN, A
    UTHMAN, SM
    NEPHRON, 1977, 19 (06): : 328 - 332
  • [30] Uncommon purinic lithiasis adenine phosphoribosyltransferase (APRT) deficiency and hereditary xanthinuria
    Costa, JAO
    Cabrera, AZ
    Monleón, SF
    MEDICINA CLINICA, 2002, 119 (13): : 508 - 515