PATIENT WITH PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY - ENZYMOLOGICAL AND METABOLIC ASPECTS

被引：0
|
作者：
SIEGENBEEKVANHEUKELOM, LH
AKKERMAN, JWN
STAAL, GEJ
DEBRUYN, CHMM
STOOP, JW
ZEGERS, BJM
DEBREE, PK
WADMAN, SK
机构：
[1] STATE UNIV UTRECHT HOSP,MED ENZYMOL UNIT,UTRECHT,NETHERLANDS
[2] CATHOLIC UNIV NIJMEGEN,FAC MED,DEPT HUMAN GENET,NIJMEGEN,NETHERLANDS
[3] UNIV CHILDRENS HOSP HET WILHELMINA KINDERZIEKENHUIS,UTRECHT,NETHERLANDS
来源：
CLINICA CHIMICA ACTA | 1977年 / 74卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：271 / 279
页数：9
相关论文
共 50 条
  • [41] Purine Nucleoside Phosphorylase Deficiency in Three Adults with Recurrent Infections
    Campbell, Nicholas
    Chapdelaine, Hugo
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 397 - 398
  • [42] Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients
    Alangari, Abdullah
    Al-Harbi, Abdullah
    Al-Ghonaium, Abdulaziz
    Santisteban, Ines
    Hershfield, Michael
    ANNALS OF SAUDI MEDICINE, 2009, 29 (04) : 309 - 312
  • [43] Purine Nucleoside Phosphorylase Deficiency Associated with a Dysplastic Marrow Morphology
    Yigal Dror
    Eyal Grunebaum
    Johann Hitzler
    Aru Narendran
    Charles Ye
    Raymond Tellier
    Vernon Edwards
    Melvin H Freedman
    Chaim M Roifman
    Pediatric Research, 2004, 55 : 472 - 477
  • [44] Purine nucleoside phosphorylase deficiency with fatal course in two sisters
    Caner Aytekin
    Figen Dogu
    Gonul Tanir
    Deniz Guloglu
    Ines Santisteban
    Michael S. Hershfield
    Aydan Ikinciogullari
    European Journal of Pediatrics, 2010, 169 : 311 - 314
  • [45] Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology
    Dror, Y
    Grunebaum, E
    Hitzler, J
    Narendran, A
    Ye, C
    Tellier, R
    Edwards, V
    Freedman, MH
    Roifman, CM
    PEDIATRIC RESEARCH, 2004, 55 (03) : 472 - 477
  • [46] A CANINE MODEL OF INDUCED PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
    OSBORNE, WRA
    DEEG, HJ
    SLICHTER, SJ
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1986, 66 (01) : 166 - 172
  • [47] TREATMENT OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY WITH DEOXYCYTIDINE AND TETRAHYDROURIDINE
    STOOP, JW
    ZEGERS, BJM
    SPAAPEN, LJM
    KUIS, W
    ROORD, JJ
    RIJKERS, GT
    STAAL, GEJ
    RIJKSEN, G
    DURAN, M
    WADMAN, SK
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1982, 20 (06): : 423 - 423
  • [48] PARTIAL PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY - STUDIES OF LYMPHOCYTE FUNCTION
    GELFAND, EW
    DOSCH, HM
    BIGGAR, WD
    JOURNAL OF CLINICAL INVESTIGATION, 1978, 61 (04) : 1071 - 1080
  • [49] CLINICOBIOCHEMICAL AND MOLECULAR STUDIES OF PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY
    SAKIYAMA, T
    IWASE, M
    HORINOUCHI, K
    AKATSUKA, A
    YOSHIDA, Y
    KIKUCHI, T
    SHIMATAKE, H
    KITAGAWA, T
    PURINE AND PYRIMIDINE METABOLISM IN MAN VI, PT A: CLINICAL AND MOLECULAR BIOLOGY, 1989, 253 : 73 - 79
  • [50] Purine nucleoside phosphorylase deficiency with fatal course in two sisters
    Aytekin, Caner
    Dogu, Figen
    Tanir, Gonul
    Guloglu, Deniz
    Santisteban, Ines
    Hershfield, Michael S.
    Ikinciogullari, Aydan
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (03) : 311 - 314
12345