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：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 04期

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 ;

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HOFFMANN, GF ;

SMOOKER, PM ;

COTTON, RGH .

PEDIATRIC RESEARCH, 1992, 32 (06) :726-730

[2] International database of tetrahydrobiopterin deficiencies [J].

Blau, N ;

Barnes, I ;

Dhondt, JL .

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 [J].

HYLAND, K ;

HOWELLS, DW .

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

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