Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency

Published:1995 Issue:2 Volume:18 Page:173-176
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hoffmann G. F.,B�hles H. J.,Burlina A.,Duran M.,Herwig J.,Lehnert W.,Leonard J. V.,Muntau A.,Plecko-Starting F. K.,Superti-Furga A.,Trefz F. K.,Christensen E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00711759

Reference7 articles.

1. Amir N, Elpeleg ON, Shalev RS, Christensen E (1989) Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.J Pediatr 114: 983?989.

2. Drigo P, Burlina AB, Battistella PA (1993) Subdural hematoma and glutaric aciduria type I.Brain Dev 15: 460?461.

3. Haworth JC, Booth FA, Chudley AE et al (1991) Phenotypic variability in glutaric aciduria type I: report of fourteen cases in five Canadian Indian kindreds.J Pediatr 118: 52?58.

4. Hoffmann GF, Trefz FK, Barth P et al (1991) Glutaryl-CoA dehydrogenase deficiency: a distinct encephalopathy.Pediatrics 88: 1194?1203.

5. Kyllerman M, Skjeldal OH, Lundberg M et al (1994) Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations.Movement Disorders 9: 22?30.

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