ABSENCE OF HEPATIC MOLYBDENUM COFACTOR - AN INBORN ERROR OF METABOLISM ASSOCIATED WITH LENS DISLOCATION

被引：8

作者：

BEEMER, FA

DURAN, M

WADMAN, SK

CATS, BP

机构：

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1985年 / 5卷 / 03期

关键词：

D O I：

10.3109/13816818509006133

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

引用

页码：191 / 195

页数：5

共 11 条

[1] BATEMAN JB, 1983, PEDIATR CLIN N AM, V30, P1015
[2] MICRO-ASSAY OF INORGANIC SULFATE IN BIOLOGICAL-FLUIDS BY CONTROLLED FLOW ANION CHROMATOGRAPHY
COLE, DEC
SCRIVER, CR
[J]. JOURNAL OF CHROMATOGRAPHY, 1981, 225 (02): : 359 - 367
[3] Cross H E, 1976, Birth Defects Orig Artic Ser, V12, P335
[4] Duran M, 1978, J Inherit Metab Dis, V1, P175, DOI 10.1007/BF01805591
[5] STRUCTURAL AND METABOLIC RELATIONSHIP BETWEEN THE MOLYBDENUM COFACTOR AND UROTHIONE
JOHNSON, JL
RAJAGOPALAN, KV
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (22): : 6856 - 6860
[6] MUDD SH, 1983, METABOLIC BASIS INHE, P522
[7] MULTIPLE MOLYBDOENZYME DEFICIENCIES DUE TO AN INBORN ERROR OF MOLYBDENUM COFACTOR METABOLISM - 2 ADDITIONAL CASES IN A NEW FAMILY
MUNNICH, A
SAUDUBRAY, JM
CHARPENTIER, C
OGIER, H
COUDE, FX
FREZAL, J
YACOUB, L
HARBI, A
SNOUSSI, S
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1983, 6 : 95 - 96
[8] OGIER H, 1983, LANCET, V2, P1363
[9] OGIER H, 1982, ANN MED INTERNE, V133, P594
[10] SULFITE OXIDASE DEFICIENCY - BIOCHEMICAL AND CLINICAL INVESTIGATIONS OF A HEREDITARY METABOLIC DISORDER IN SULFUR METABOLISM
SHIH, VE
ABROMS, IF
JOHNSON, JL
CARNEY, M
MANDELL, R
ROBB, RM
CLOHERTY, JP
RAJAGOPALAN, KV
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1977, 297 (19) : 1022 - 1028