Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency-Reference-Cited by-同舟云学术

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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

Published:1998-10 Issue:7 Volume:21 Page:748-752
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Harpey J-P.¹,Heron D.¹,Prudent M.¹,Charpentier C.²,Rustin P.³,Ponsot G.⁴,Cormier-Daire V.³

Affiliation:

1. ; Clinique de Pédiatrie-Génétique Médicale; Hôpital de la Salpêtrière; Paris France

2. ; Laboratoire de Biochimie; Hôpital des Enfants Malades; Paris France

3. ; Unité; INSERM U-393, Hôpital des Enfants Malades; Paris France

4. ; Service de Neuropédiatrie; Hôpital Saint Vincent de Paul; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005497116398/fullpdf

Reference9 articles.

1. The inherited leukodystrophies: a clinical overview;Aicardi;J Inher Metab Dis,1993

2. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome;Bourgeois;Brain Dev,1992

3. Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother;Harpey;J Pediatr,1983

4. Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities;Ribes;J Inher Metab Dis,1993

5. Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism;Ruitenbeek;J Inher Metab Dis,1996

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