A NEW CASE OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY - ENZYMOLOGIC, CLINICAL, AND IMMUNOLOGICAL CHARACTERISTICS

被引:22
|
作者
RIJKSEN, G
KUIS, W
WADMAN, SK
SPAAPEN, LJM
DURAN, M
VOORBROOD, BS
STAAL, GEJ
STOOP, JW
ZEGERS, BJM
机构
[1] UNIV HOSP CHILDREN & YOUTH HET WILHELMINA KINDERZIEKENHUIS UTRECHT,POB 18009,3501 CA UTRECHT,NETHERLANDS
[2] JULIANA ZIEKENHUIS,DEPT PEDIAT,RHENEN,NETHERLANDS
[3] STATE UNIV UTRECHT HOSP,DEPT HAEMATOL,DIV MED ENZYMOL,3511 GV UTRECHT,NETHERLANDS
关键词
D O I
10.1203/00006450-198702000-00006
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:137 / 141
页数:5
相关论文
共 50 条
  • [41] Purine nucleoside phosphorylase deficiency in Saudi Arabia
    Alangari, AAA
    Al-Harbi, A
    Alghonaium, A
    Hershfied, M
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2006, 117 (02) : S173 - S173
  • [42] FATAL GRAFT VERSUS HOST-DISEASE AFTER PLATELET TRANSFUSIONS IN A CHILD WITH PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
    STROBEL, S
    MORGAN, G
    SIMMONDS, AH
    LEVINSKY, RJ
    EUROPEAN JOURNAL OF PEDIATRICS, 1989, 148 (04) : 312 - 314
  • [43] Immunodeficiency caused by purine nucleoside phosphorylase deficiency
    Cohen, A
    Grunebaum, E
    Arpaia, E
    Roifman, CM
    IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA, 2000, 20 (01) : 143 - +
  • [44] PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: A MUTATION UPDATE
    Fairbanks, L.
    Walker, P.
    Corrigan, A.
    Arenas, M.
    Escuredo, E.
    Marinaki, A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S249 - S249
  • [45] PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: A MUTATION UPDATE
    Walker, P. L. C.
    Corrigan, Adele
    Arenas, Monica
    Escuredo, Emilia
    Fairbanks, Lynette
    Marinaki, Anthony
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2011, 30 (12): : 1243 - 1247
  • [46] URINARY-EXCRETION OF OROTIC-ACID, OROTIDINE AND OTHER PYRIMIDINES IN A PATIENT WITH PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
    VANGENNIP, AH
    GRIFT, J
    DEBREE, PK
    ZEGERS, BJM
    STOOP, JW
    WADMAN, SK
    CLINICA CHIMICA ACTA, 1979, 93 (03) : 419 - 428
  • [47] PURINE NUCLEOSIDE PHOSPHORYLASE (PNP) DEFICIENCY WITH CELLULAR IMMUNE DEFICIENCY
    RICH, K
    ARNOLD, W
    FOX, I
    PALELLA, T
    PEDIATRIC RESEARCH, 1978, 12 (04) : 485 - 485
  • [48] Mitochondrial basis for immune deficiency in purine nucleoside phosphorylase deficiency
    Arpaia, E
    Grunebaum, E
    Gu, Y
    Dalal, I
    Cohen, A
    Roifman, CM
    IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES, 2000, : 87 - 95
  • [49] THE MECHANISM OF INHIBITION AND REVERSAL OF MITOGEN-INDUCED LYMPHOCYTE-ACTIVATION IN A MODEL OF PURINE-NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
    ALBERT, D
    BLUESTEIN, HG
    WILLIS, RC
    NETTE, K
    SEEGMILLER, JE
    CELLULAR IMMUNOLOGY, 1984, 86 (02) : 501 - 509
  • [50] PRENATAL-DIAGNOSIS OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY IN THE 1ST AND 2ND TRIMESTERS OF PREGNANCY
    KLEIJER, WJ
    HUSSAARTSODIJK, LM
    LOS, FJ
    PIJPERS, L
    DEBREE, PK
    DURAN, M
    PRENATAL DIAGNOSIS, 1989, 9 (06) : 401 - 407