Literature DB >> 7807937

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

B Garavaglia1, V Colamaria, F Carrara, P Tonin, M Rimoldi, G Uziel.   

Abstract

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Year:  1994        PMID： 7807937     DOI： 10.1007/bf00711813

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


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  5 in total

1.  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

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.  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

4.  Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.

Authors:  F E Frerman; S I Goodman
Journal:  Biochem Med       Date:  1985-02

5.  Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase.

Authors:  S Di Donato; F E Frerman; M Rimoldi; P Rinaldo; F Taroni; U N Wiesmann
Journal:  Neurology       Date:  1986-07       Impact factor: 9.910
  5 in total
  9 in total

1.  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 2.  Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

Authors:  U Caruso; A Adami; E Bertini; A B Burlina; F Carnevale; R Cerone; C Dionisi-Vici; G Giordano; E Leuzzi; G Parenti; S Savasta; G Uziel; M Zeviani
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  Ethylmalonic acid induces permeability transition in isolated brain mitochondria.

Authors:  Cristiane Cecatto; Alexandre Umpierrez Amaral; Guilhian Leipnitz; Roger Frigério Castilho; Moacir Wajner
Journal:  Neurotox Res       Date:  2014-02-21       Impact factor: 3.911

4.  Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.

Authors:  X Fu; P Rinaldo; S H Hahn; H Kodama; S Packman
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

5.  Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy.

Authors:  Carla Giordano; Carlo Viscomi; Maurizia Orlandi; Paola Papoff; Alberto Spalice; Alberto Burlina; Ivano Di Meo; Valeria Tiranti; Vincenzo Leuzzi; Giulia d'Amati; Massimo Zeviani
Journal:  J Inherit Metab Dis       Date:  2011-10-22       Impact factor: 4.982

6.  Severe early onset ethylmalonic encephalopathy with West syndrome.

Authors:  Laura Papetti; Giacomo Garone; Livia Schettini; Carla Giordano; Francesco Nicita; Paola Papoff; Massimo Zeviani; Vincenzo Leuzzi; Alberto Spalice
Journal:  Metab Brain Dis       Date:  2015-07-21       Impact factor: 3.584

7.  Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.

Authors:  Ali Reza Tavasoli; Parastoo Rostami; Mahmoud Reza Ashrafi; Parvaneh Karimzadeh
Journal:  Iran J Child Neurol       Date:  2017

8.  Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient.

Authors:  Giorgia Olivieri; Diego Martinelli; Daniela Longo; Chiara Grimaldi; Daniela Liccardo; Ivano Di Meo; Andrea Pietrobattista; Anna Sidorina; Michela Semeraro; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2021-05-19       Impact factor: 4.123

9.  Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Authors:  Valeria Tiranti; Pio D'Adamo; Egill Briem; Gianfrancesco Ferrari; Rossana Mineri; Eleonora Lamantea; Hanna Mandel; Paolo Balestri; Maria-Teresa Garcia-Silva; Brigitte Vollmer; Piero Rinaldo; Si Houn Hahn; James Leonard; Shamima Rahman; Carlo Dionisi-Vici; Barbara Garavaglia; Paolo Gasparini; Massimo Zeviani
Journal:  Am J Hum Genet       Date:  2004-01-19       Impact factor: 11.025
  9 in total

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