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Literature DB >> 7609450

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

E Christensen¹, N J Brandt, H Schmalbruch, Z Kamieniecka, B Hertz, W Ruitenbeek.

Abstract

Entities: Chemical Disease

Mesh：

Substances：

Year: 1993 PMID： 7609450 DOI： 10.1007/BF00711679

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

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8 in total

1. A microspectrophotometric method for the determination of cytochrome oxidase.

Authors: S J COOPERSTEIN; A LAZAROW
Journal: J Biol Chem Date: 1951-04 Impact factor: 5.157

2. An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.

Authors: J D McGarry; D W Foster
Journal: J Lipid Res Date: 1976-05 Impact factor: 5.922

3. Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.

Authors: W F Arts; H R Scholte; M C Loonen; H Przyrembel; J Fernandes; J M Trijbels; I E Luyt-Houwen
Journal: J Neurol Sci Date: 1987-01 Impact factor: 3.181

Review 4. Cytochrome c oxidase deficiency.

Authors: S DiMauro; A Lombes; H Nakase; S Mita; G M Fabrizi; H J Tritschler; E Bonilla; A F Miranda; D C DeVivo; E A Schon
Journal: Pediatr Res Date: 1990-11 Impact factor: 3.756

5. Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.

Authors: S I Goodman; E R McCabe; P V Fennessey; J W Mace
Journal: Pediatr Res Date: 1980-01 Impact factor: 3.756

6. Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia.

Authors: E Christensen; B B Jacobsen; N Gregersen; H Hjeds; J B Pedersen; N J Brandt; U B Baekmark
Journal: Clin Chim Acta Date: 1981-11-11 Impact factor: 3.786

7. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Authors: N Gregersen; S Kølvraa; K Rasmussen; E Christensen; N J Brandt; F Ebbesen; F H Hansen
Journal: J Inherit Metab Dis Date: 1980 Impact factor: 4.982

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

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

Authors: W Lehnert; W Ruitenbeek
Journal: J Inherit Metab Dis Date: 1993 Impact factor: 4.982

3. 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

4. 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