A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60-Reference-Cited by-同舟云学术

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A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

Published:1997-08 Issue:4 Volume:20 Page:569-577
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Briones P.¹,Vilaseca M. A.¹²,Ribes A.¹,Vernet A.²,Lluch M.¹,Cusi V.²,Huckriede A.³,Agsteribbe E.³

Affiliation:

1. Institut de Bioquímica Clínica; Corporació Sanitària i CSIC; Barcelona Spain

2. ; Serveis de Bioquímica, Neuropediatria i Anatomia Patològica; Hospital Universitari Sant Joan de Déu; Barcelona Spain

3. ; Laboratory of Physiological Chemistry; University of Groningen; Groningen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005303008439/fullpdf

Reference32 articles.

1. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60;Agsteribbe;Biochem Biophys Res Commun,1993

2. Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease;Atkin;Pediatr Res,1979

3. Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency;Briones;J Inher Metab Dis,1995

4. Molecular basis of mitochondrial disease;Brown;J Bioenerget Biomembr,1994

5. ‘Cerebral’ lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis;Brown;Eur J Pediatr,1988

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