PSEUDODOMINANT TRANSMISSION OF AN AUTOSOMAL RECESSIVE DISEASE, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

被引：2
|
作者：
ISHIDATE, T
IGARASHI, S
KAMATANI, N
机构：
[1] TOKYO WOMENS MED COLL, INST RHEUMATOL,NS BLDG,2-4-1 NISHISHINJUKU, SHINJUKU KU, TOKYO 163, JAPAN
[2] KITASATO UNIV, SCH MED, DEPT PEDIAT, SAGAMIHARA, KANAGAWA 228, JAPAN
[3] KANAGAWA HLTH SERV ASSOC, KANAGAWA, JAPAN
来源：
JOURNAL OF PEDIATRICS | 1991年 / 118卷 / 01期
关键词：
JAPANESE; FAMILIES; COMMON;
D O I：
10.1016/S0022-3476(05)81854-2
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
[No abstract available]
引用
收藏
页码：90 / 91
页数：2
相关论文
共 50 条
  • [1] Kidney Disease in Adenine Phosphoribosyltransferase Deficiency
    Runolfsdottir, Hrafnhildur Linnet
    Palsson, Runolfur
    Agustsdottir, Inger M.
    Indridason, Olafur S.
    Edvardsson, Vidar O.
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2016, 67 (03) : 431 - 438
  • [2] Adenine Phosphoribosyltransferase Deficiency
    Bollee, Guillaume
    Harambat, Jerome
    Bensman, Albert
    Knebelmann, Bertrand
    Daudon, Michel
    Ceballos-Picot, Irene
    CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2012, 7 (09): : 1521 - 1527
  • [3] Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease
    Leow, Esther Huimin
    Ganesan, Indra
    Le Chong, Siew
    Yap, Celeste Jia Ying
    Chao, Sing Ming
    Wang, Fan
    Ng, Yong Hong
    INTERNATIONAL UROLOGY AND NEPHROLOGY, 2025,
  • [4] Adenine phosphoribosyltransferase deficiency in children
    Harambat, Jerome
    Bollee, Guillaume
    Daudon, Michel
    Ceballos-Picot, Irene
    Bensman, Albert
    PEDIATRIC NEPHROLOGY, 2012, 27 (04) : 571 - 579
  • [5] Adenine phosphoribosyltransferase deficiency in children
    Jérôme Harambat
    Guillaume Bollée
    Michel Daudon
    Irène Ceballos-Picot
    Albert Bensman
    Pediatric Nephrology, 2012, 27 : 571 - 579
  • [6] DEFICIENCY OF ADENINE PHOSPHORIBOSYLTRANSFERASE (APRT)
    OGITA, Z
    ISOBE, M
    OSADA, T
    HASHINAKA, Y
    FUKUNISHI, T
    JAPANESE JOURNAL OF HUMAN GENETICS, 1982, 27 (02): : 147 - 147
  • [7] CHARACTERIZATION OF AN ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
    CHIBA, P
    ZWIAUER, K
    MULLER, MM
    CLINICA CHIMICA ACTA, 1988, 172 (2-3) : 141 - 147
  • [8] ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN ICELAND
    LAXDAL, T
    JONASSON, TA
    ACTA MEDICA SCANDINAVICA, 1988, 224 (06): : 621 - 626
  • [9] EVIDENCE FOR AUTOSOMAL RECESSIVE TRANSMISSION OF ALEXANDERS DISEASE
    KLEIN, SK
    GOULDEN, KJ
    RAPIN, I
    ANNALS OF NEUROLOGY, 1988, 24 (02) : 302 - 302
  • [10] ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN A FEMALE WITH GOUT
    EMMERSON, BT
    GORDON, RB
    THOMPSON, L
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1973, 9 (08): : 1090 - 1091
12345