REPORT ON A NEW PATIENT WITH COMBINED DEFICIENCIES OF SULFITE OXIDASE AND XANTHINE DEHYDROGENASE DUE TO MOLYBDENUM COFACTOR DEFICIENCY

被引:24
作者
ENDRES, W [1 ]
SHIN, YS [1 ]
GUNTHER, R [1 ]
IBEL, H [1 ]
DURAN, M [1 ]
WADMAN, SK [1 ]
机构
[1] STATE UNIV UTRECHT,CHILDRENS HOSP,UTRECHT,NETHERLANDS
关键词
D O I
10.1007/BF00441412
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:246 / 249
页数:4
相关论文
共 18 条
[1]  
BARBEAU A, 1977, LIFE SCI, V17, P669
[2]   NEUROPATHOLOGICAL FINDINGS IN A CASE OF COMBINED DEFICIENCY OF SULFITE OXIDASE AND XANTHINE DEHYDROGENASE [J].
BARTH, PG ;
BEEMER, FA ;
CATS, BP ;
DURAN, M ;
WADMAN, SK .
VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY, 1985, 408 (01) :105-106
[3]  
Duran M, 1978, J Inherit Metab Dis, V1, P175, DOI 10.1007/BF01805591
[4]   RENAL EXCRETION OF CYSTATHIONINE AND CREATININE IN HUMANS AT DIFFERENT AGES [J].
ENDRES, W ;
SEIBOLD, H .
CLINICA CHIMICA ACTA, 1978, 87 (03) :425-432
[5]   HEREDITARY XANTHINURIA - REPORT ON 3 PATIENTS AND SHORT REVIEW OF LITERATURE [J].
FRAYHA, RA ;
SALTI, IS ;
ARNAOUT, A ;
KHATCHADURIAN, A ;
UTHMAN, SM .
NEPHRON, 1977, 19 (06) :328-332
[6]  
HOLMES EW, 1983, METABOLIC BASIS INHE, P1192
[7]  
Irreverre F., 1967, BIOCHEM MED, V1, P187, DOI 10.1016/0006-2944(67)90007-5
[8]   INBORN-ERRORS OF MOLYBDENUM METABOLISM - COMBINED DEFICIENCIES OF SULFITE OXIDASE AND XANTHINE DEHYDROGENASE IN A PATIENT LACKING THE MOLYBDENUM COFACTOR [J].
JOHNSON, JL ;
WAUD, WR ;
RAJAGOPALAN, KV ;
DURAN, M ;
BEEMER, FA ;
WADMAN, SK .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (06) :3715-3719
[9]  
JOHNSON JL, 1988, IN PRESS METABOLIC B
[10]   MULTIPLE MOLYBDOENZYME DEFICIENCIES DUE TO AN INBORN ERROR OF MOLYBDENUM COFACTOR METABOLISM - 2 ADDITIONAL CASES IN A NEW FAMILY [J].
MUNNICH, A ;
SAUDUBRAY, JM ;
CHARPENTIER, C ;
OGIER, H ;
COUDE, FX ;
FREZAL, J ;
YACOUB, L ;
HARBI, A ;
SNOUSSI, S .
JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 :95-96