Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading-Reference-Cited by-同舟云学术

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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

Published:1999-05 Issue:3 Volume:22 Page:216-220
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Blau N.¹,Thöny B.¹,Renneberg A.²,Penzien J. M.³,Hyland K.⁴⁵,Hoffmann G. F.⁶

Affiliation:

1. Division of Clinical Chemistry and Biochemistry; University Children's Hospital; Zu¨rich Switzerland

2. Children's Hospital Königsborn; Unna Germany

3. Children's Hospital Augsburg; Germany

4. ; Institute of Metabolic Disease; Baylor University Medical Center; Dallas Texas USA

5. ; Department of Neurology; University of Texas Southwestern Medical Center; Dallas Texas USA

6. ; University Children's Hospital; Marburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005584627797/fullpdf

Reference7 articles.

1. Dihydropteridine reductase deficiency localized to the central nervous system;Blau;J Inher Metab Dis,1998

2. Oral phenylalanine loading in doparesponsive dystonia-a possible diagnostic test;Hyland;Neurology,1997

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