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Literature DB >> 1683940

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

A Burlina, F Zacchello, C Dionisi-Vici, E Bertini, G Sabetta, M J Bennet, D E Hale, E Schmidt-Sommerfeld, P Rinaldo.

Abstract

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Year: 1991 PMID： 1683940 DOI： 10.1016/0140-6736(91)92338-3

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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30 in total

1. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

Authors: H R Yoon; S H Hahn; Y M Ahn; S H Jang; Y J Shin; E H Lee; K H Ryu; B L Eun; P Rinaldo; S Yamaguchi
Journal: J Inherit Metab Dis Date: 2001-12 Impact factor: 4.982

2. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Authors: Magalie Barth; Chris Ottolenghi; Laurence Hubert; Dominique Chrétien; Valérie Serre; Stéphanie Gobin; Stéphane Romano; Anne Vassault; Aziz Sefiani; Daniel Ricquier; Nathalie Boddaert; Michèle Brivet; Yves de Keyzer; Arnold Munnich; Marinus Duran; Daniel Rabier; Vassili Valayannopoulos; Pascale de Lonlay
Journal: J Inherit Metab Dis Date: 2010-10-27 Impact factor: 4.982

Review 3. Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.

Authors: George N Phillips; Brian G Fox; John L Markley; Brian F Volkman; Euiyoung Bae; Eduard Bitto; Craig A Bingman; Ronnie O Frederick; Jason G McCoy; Betsy L Lytle; Brad S Pierce; Jikui Song; Simon N Twigger
Journal: J Struct Funct Genomics Date: 2007-09-06

4. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Authors: Fatma Derya Bulut; Deniz Kör; Berna Şeker-Yılmaz; Gülen Gül-Mert; Sebile Kılavuz; Neslihan Önenli-Mungan
Journal: Metab Brain Dis Date: 2017-11-20 Impact factor: 3.584

5. 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

6. 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

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

1. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

2. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.

Review 3. Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.

4. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

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

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

7. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

8. Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.

Review 9. Chemical Biology of H₂S Signaling through Persulfidation.

Review 10. Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Review 3. Structures of proteins of biomedical interest from the Center for Eukaryotic Structural Genomics.

Review 9. Chemical Biology of H2S Signaling through Persulfidation.

Review 10. Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

Review 9. Chemical Biology of H₂S Signaling through Persulfidation.