Dihydropteridine reductase deficiency localized to the central nervous system

被引：12

作者：

Blau, N

Thöny, B

Renneberg, A

Arnold, LA

Hyland, K

机构：

[1] Univ Zurich, Childrens Hosp, Div Clin Chem & Biochem, CH-8032 Zurich, Switzerland

[2] Childrens Hosp Konigsborn, Unna, Germany

[3] Baylor Univ, Med Ctr, Kimberly H Courtwright & Joseph W Summers Inst Me, Dallas, TX USA

[4] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA

来源：

关键词：

D O I：

10.1023/A:1005327313348

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：433 / 434

页数：2

共 6 条

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SPERL, W
KORENKE, GC
HOFFMANN, GF
SMOOKER, PM
COTTON, RGH
[J]. PEDIATRIC RESEARCH, 1992, 32 (06) : 726 - 730
[2] International database of tetrahydrobiopterin deficiencies
Blau, N
Barnes, I
Dhondt, JL
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (01) : 8 - 14
[3] HOWELLS D, 1986, NEW ENGL J MED, V314, P520
[4] ANALYSIS AND CLINICAL-SIGNIFICANCE OF PTERINS
HYLAND, K
HOWELLS, DW
[J]. JOURNAL OF CHROMATOGRAPHY-BIOMEDICAL APPLICATIONS, 1988, 429 : 95 - 121
[5] HYLAND K, 1989, PTERINS BIOGENIC AMI, P335
[6] SCRIVER CR, 1995, METABOLIC MOL BASES, V1, P1015