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35 in total

1. Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.

Authors: H R Scholte; H F Busch; I E Luyt-Houwen
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Authors: A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray
Journal: J Clin Invest Date: 1990-11 Impact factor: 14.808

3. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Authors: V Cormier; A Rotig; M Tardieu; M Colonna; J M Saudubray; A Munnich
Journal: Am J Hum Genet Date: 1991-04 Impact factor: 11.025

4. Foamy myocardial transformation in a child with a disturbed respiratory chain.

Authors: H Böhles; H Singer; W Ruitenbeek; J M Trijbels; R C Sengers; U P Ketelsen; E Wagner-Thiessen; H Wick
Journal: Eur J Pediatr Date: 1987-11 Impact factor: 3.183

5. Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells.

Authors: H R Scholte; H F Busch; I E Luyt-Houwen; M H Vaandrager-Verduin; H Przyrembel; W F Arts
Journal: J Inherit Metab Dis Date: 1987 Impact factor: 4.982

6. Deficiency of complex III of the mitochondrial respiratory chain in a patient with facioscapulohumeral disease.

Authors: D M Slipetz; J R Aprille; P R Goodyer; R Rozen
Journal: Am J Hum Genet Date: 1991-03 Impact factor: 11.025

7. Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.

Authors: H Ibel; W Endres; H B Hadorn; T Deufel; I Paetzke; M Duran; N G Kennaway; K M Gibson
Journal: Eur J Pediatr Date: 1993-08 Impact factor: 3.183

8. Defective pattern of mitochondrial respiratory enzymes in mitochondrial myopathy.

Authors: S Miyabayashi; K Haginoya; H Hanamizu; K Iinuma; K Narisawa; K Tada
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

9. Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract.

Authors: R C Sengers; A M Stadhouders; E van Lakwijk-Vondrovicova; K Kubat; W Ruitenbeek
Journal: Br Heart J Date: 1985-11

10. Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.

Authors: R C Sengers; J M Trijbels; J A Bakkeren; W Ruitenbeek; J C Fischer; A J Janssen; A M Stadhouders; H J ter Laak
Journal: Eur J Pediatr Date: 1984-01 Impact factor: 3.183