3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: Inborn errors of serine biosynthesis

被引:40
作者
Jaeken, J
Detheux, M
VanMaldergem, L
Frijns, JP
Alliet, P
Foulon, M
Carchon, H
VanSchaftingen, E
机构
[1] UNIV LOUVAIN,DEPT PAEDIAT,LOUVAIN,BELGIUM
[2] UNIV LOUVAIN,DEPT GENET,LOUVAIN,BELGIUM
[3] INST CELLULAR & MOLEC PATHOL,PHYSIOL CHEM LAB,BRUSSELS,BELGIUM
[4] INST MORPHOL,LOVERAL,BELGIUM
[5] VIRGA JESSE HOSP,HASSELT,BELGIUM
[6] CIV HOSP,CHARLERLOI,BELGIUM
关键词
D O I
10.1007/BF01799435
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:223 / 226
页数:4
相关论文
共 7 条
[1]   HEMIZYGOSITY AT THE ELASTIN LOCUS IN A DEVELOPMENTAL DISORDER, WILLIAMS-SYNDROME [J].
EWART, AK ;
MORRIS, CA ;
ATKINSON, D ;
JIN, WS ;
STERNES, K ;
SPALLONE, P ;
STOCK, AD ;
LEPPERT, M ;
KEATING, MT .
NATURE GENETICS, 1993, 5 (01) :11-16
[2]  
JAEKEN J, IN PRESS ARCH DIS CH
[3]   ASSIGNMENT OF THE HUMAN PHOSPHOSERINE PHOSPHATASE GENE (PSP) TO THE PTER-]Q22 REGION OF CHROMOSOME-7 [J].
KOCH, GA ;
EDDY, RL ;
HALEY, LL ;
BYERS, MG ;
MCAVOY, M ;
SHOWS, TB .
CYTOGENETICS AND CELL GENETICS, 1983, 35 (01) :67-69
[4]  
NOVELLI G, 1988, ANN GENET-PARIS, V31, P195
[5]  
Scriver C.R., 1995, The Metabolic and Molecular Bases of Inherited Disease, V7th ed, P1015
[6]   KINETICS OF NEUTRAL AMINO-ACID-TRANSPORT ACROSS THE BLOOD-BRAIN-BARRIER [J].
SMITH, QR ;
MOMMA, S ;
AOYAGI, M ;
RAPOPORT, SI .
JOURNAL OF NEUROCHEMISTRY, 1987, 49 (05) :1651-1658