Literature DB >> 6285228

Cytochrome-c-oxidase deficiency in a floppy infant.

T D Heiman-Patterson, E Bonilla, S DiMauro, J Foreman, D L Schotland.   

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Year:  1982        PMID： 6285228     DOI： 10.1212/wnl.32.8.898

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  19 in total

1.  Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease.

Authors:  M Glerum; B H Robinson; C Spratt; J Wilson; D Patrick
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

2.  Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

Authors:  A Bardosi; W Creutzfeldt; S DiMauro; K Felgenhauer; R L Friede; H H Goebel; A Kohlschütter; G Mayer; G Rahlf; S Servidei
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

3.  Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn.

Authors:  A Lombes; N B Romero; G Touati; P Frachon; M A Cheval; M Giraud; D Simon; H Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Cytochrome c oxidase deficiency in infancy.

Authors:  A Oldfors; H Sommerland; E Holme; M Tulinius; B Kristiansson
Journal:  Acta Neuropathol       Date:  1989       Impact factor: 17.088

5.  A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle.

Authors:  P M Van Erven; F J Gabreëls; W Ruitenbeek; W O Renier; H J Ter Laak; A M Stadhouders
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-05       Impact factor: 10.154

6.  Mitochondrial oculoskeletal myopathy: case report.

Authors:  A Colombo; E Merelli; P Sola; P Panzetti; D Quaglino; C Fornieri
Journal:  Ital J Neurol Sci       Date:  1988-08

7.  Absence of cytochrome c oxidase activity in a boy with dysfunction of renal tubules, brain and muscle.

Authors:  A M Das; S Schweitzer-Krantz; D J Byrd; J Brodehl
Journal:  Eur J Pediatr       Date:  1994-04       Impact factor: 3.183

8.  Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia.

Authors:  B H Robinson; N McKay; P Goodyer; G Lancaster
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

9.  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

10.  Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.

Authors:  J B Clark; D J Hayes; J A Morgan-Hughes; E Byrne
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982
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