Literature DB >> 2172644

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

G F Hoffmann1, D H Hunneman, C Jakobs, E Wilichowski, S W Eber, F Hanefeld, D Rating, H Reichmann.   

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Year:  1990        PMID： 2172644     DOI： 10.1007/BF01799389

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


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  6 in total

1.  Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness.

Authors:  P M Coates; D E Hale; G Finocchiaro; K Tanaka; S C Winter
Journal:  J Clin Invest       Date:  1988-01       Impact factor: 14.808

2.  The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.

Authors:  M J Bennett; R G Gray; D M Isherwood; N Murphy; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

3.  Deletion of blood mitochondrial DNA in pancytopenia.

Authors:  A Rötig; M Colonna; S Blanche; A Fischer; F Le Deist; J Frezal; J M Saudubray; A Munnich
Journal:  Lancet       Date:  1988-09-03       Impact factor: 79.321

4.  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

5.  Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.

Authors:  G Hoffmann; S Aramaki; E Blum-Hoffmann; W L Nyhan; L Sweetman
Journal:  Clin Chem       Date:  1989-04       Impact factor: 8.327

6.  Enzymes of fatty acid beta-oxidation in developing brain.

Authors:  H Reichmann; W A Maltese; D C DeVivo
Journal:  J Neurochem       Date:  1988-08       Impact factor: 5.372
  6 in total
  3 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.  A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.

Authors:  A C Sewell; J Herwig; H Böhles; P Rinaldo; A Bhala; D E Hale
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183
  3 in total

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