Literature DB >> 2515378

A fourth case of fumarase deficiency.

V Walker1, G A Mills, M A Hall, G H Millward-Sadler, N R English, R A Chalmers.   

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Year:  1989        PMID： 2515378     DOI： 10.1007/bf01799229

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


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  2 in total

1.  Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.

Authors:  A B Zinn; D S Kerr; C L Hoppel
Journal:  N Engl J Med       Date:  1986-08-21       Impact factor: 91.245

2.  Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing.

Authors:  R Petrova-Benedict; B H Robinson; T E Stacey; J Mistry; R A Chalmers
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025
  2 in total
  7 in total

Review 1.  Magnetic resonance imaging in lactic acidosis.

Authors:  M S van der Knaap; C Jakobs; J Valk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 2.  Fumaric aciduria: an overview and the first Brazilian case report.

Authors:  Gabriella Allegri; Marcia J Fernandes; Fernanda B Scalco; Patricia Correia; Ruth E Simoni; Juan C Llerena; Maria L Costa de Oliveira
Journal:  J Inherit Metab Dis       Date:  2010-06-15       Impact factor: 4.982

Review 3.  Neuropathology and pathogenesis of mitochondrial diseases.

Authors:  G K Brown; M V Squier
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.

Authors:  P Briones; M A Vilaseca; A Ribes; A Vernet; M Lluch; V Cusi; A Huckriede; E Agsteribbe
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

Review 5.  Metabolic disorders of embryogenesis.

Authors:  G K Brown
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

6.  Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.

Authors:  T Bourgeron; D Chretien; J Poggi-Bach; S Doonan; D Rabier; P Letouzé; A Munnich; A Rötig; P Landrieu; P Rustin
Journal:  J Clin Invest       Date:  1994-06       Impact factor: 14.808

7.  Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcifications.

Authors:  J F Samson; P G Barth; J I de Vries; F H Menko; W Ruitenbeek; B A van Oost; C Jakobs
Journal:  Eur J Pediatr       Date:  1994-07       Impact factor: 3.183
  7 in total

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