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Literature DB >> 7609451

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.

W Lehnert¹, W Ruitenbeek.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1993 PMID： 7609451 DOI： 10.1007/BF00711680

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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8 in total

1. Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.

Authors: H Reichmann; H Scheel; B Bier; U P Ketelsen; S Zabransky
Journal: Ann Neurol Date: 1992-01 Impact factor: 10.422

2. New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Authors: A Burlina; F Zacchello; C Dionisi-Vici; E Bertini; G Sabetta; M J Bennet; D E Hale; E Schmidt-Sommerfeld; P Rinaldo
Journal: Lancet Date: 1991-12-14 Impact factor: 79.321

3. Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.

Authors: G F Hoffmann; D H Hunneman; C Jakobs; E Wilichowski; S W Eber; F Hanefeld; D Rating; H Reichmann
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Review 4. Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach.

Authors: J M Trijbels; R C Sengers; W Ruitenbeek; J C Fischer; J A Bakkeren; A J Janssen
Journal: Eur J Pediatr Date: 1988-11 Impact factor: 3.183

5. Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency.

Authors: E Christensen; N J Brandt; H Schmalbruch; Z Kamieniecka; B Hertz; W Ruitenbeek
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

6. Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

Authors: D M Turnbull; K Bartlett; D L Stevens; K G Alberti; G J Gibson; M A Johnson; A J McCulloch; H S Sherratt
Journal: N Engl J Med Date: 1984-11-08 Impact factor: 91.245

7. The urinary excretion of ethylmalonic acid: what level requires further attention?

Authors: M Duran; F J Walther; L Bruinvis; S K Wadman
Journal: Biochem Med Date: 1983-04

8. Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases.

Authors: S Mantagos; M Genel; K Tanaka
Journal: J Clin Invest Date: 1979-12 Impact factor: 14.808

8 in total

7 in total

1. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

Authors: Christina B Pedersen; Zarazuela Zolkipli; Søren Vang; Johan Palmfeldt; Margrethe Kjeldsen; Vibeke Stenbroen; Stinne P Schmidt; Ronald J A Wanders; Jos P N Ruiter; Flemming Wibrand; Ingrid Tein; Niels Gregersen
Journal: J Inherit Metab Dis Date: 2010-05-05 Impact factor: 4.982

2. Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?

Authors: D Rabier; J Bardet; P Parvy; F Poggi; M Brivet; J M Saudubray; P Kamoun
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

3. Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.

Authors: B Garavaglia; V Colamaria; F Carrara; P Tonin; M Rimoldi; G Uziel
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982