A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy-Reference-Cited by-同舟云学术

A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy

Published:2002-05 Issue:2 Volume:25 Page:126-130
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Prietsch V.¹²,Peters V.¹,Hackler R.³,Jakobi R.⁴,Assmann B.¹,Fang J.¹,Körner C.⁵,Helwig-Rolig A.⁶,Schaefer J. R.³,Hoffmann G. F.¹

Affiliation:

1. Sektion für Metabolische und Endokrinologische Erkrankungen; Universitäts-Kinderklinik; Heidelberg

2. ; Universitäts-Kinderklinik; Im Neuenheimer Feld 150 Heidelberg 69120 Germany

3. ; Zentrum Innere Medizin, Abt. Kardiologie, AG Präventive Kardiologie; Philipps-Universität; Marburg

4. ; Klinik für Kinder- und Jugendmedizin; Klinikum Offenbach; Offenbach

5. ; Abt. Biochemie II; Georg-August-Universität Göttingen; Göttingen

6. ; Abt. Klinische Chemie und Molekulare Diagnostik-Zentrallaboratorium; Philipps-Universität; Marburg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1015628810892/fullpdf

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5. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie;Imbach;J Clin Invest,2000

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