Literature DB >> 11117439

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

N J Manning1, S E Olpin, R J Pollitt, M Downing, A F Heeley, I D Young.   

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Year:  2000        PMID： 11117439     DOI： 10.1023/a:1005667906032

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


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  8 in total

1.  Fumarate hydratase deficiency.

Authors:  E Bonioli; A Di Stefano; V Peri; U Caruso; R Cerone; E Lamantea; F Taroni; C Bellini
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

2.  Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family.

Authors:  H D Bakker; C Van den Bogert; H R Scholte; R Zwart; F A Wijburg; J N Spelbrink
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  A simple spectrophotometric assay for fumarate hydratase in crude tissue extracts.

Authors:  M D Hatch
Journal:  Anal Biochem       Date:  1978-03       Impact factor: 3.365

4.  Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

Authors:  J Poulton; K Morten; C Freeman-Emmerson; C Potter; C Sewry; V Dubowitz; H Kidd; J Stephenson; W Whitehouse; F J Hansen
Journal:  Hum Mol Genet       Date:  1994-10       Impact factor: 6.150

5.  Molecular analysis and prenatal diagnosis of human fumarase deficiency.

Authors:  E M Coughlin; E Christensen; P L Kunz; K S Krishnamoorthy; V Walker; N R Dennis; R A Chalmers; O N Elpeleg; D Whelan; R J Pollitt; V Ramesh; R Mandell; V E Shih
Journal:  Mol Genet Metab       Date:  1998-04       Impact factor: 4.797

6.  Clinical manifestations of mitochondrial DNA depletion.

Authors:  T H Vu; M Sciacco; K Tanji; C Nichter; E Bonilla; S Chatkupt; P Maertens; S Shanske; J Mendell; M R Koenigsberger; L Sharer; E A Schon; S DiMauro; D C DeVivo
Journal:  Neurology       Date:  1998-06       Impact factor: 9.910

7.  mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Authors:  C T Moraes; S Shanske; H J Tritschler; J R Aprille; F Andreetta; E Bonilla; E A Schon; S DiMauro
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

8.  Fatal infantile liver failure associated with mitochondrial DNA depletion.

Authors:  M R Mazziotta; E Ricci; E Bertini; C Dionisi Vici; S Servidei; A B Burlina; G Sabetta; A Bartuli; G Manfredi; G Silvestri
Journal:  J Pediatr       Date:  1992-12       Impact factor: 4.406
  8 in total
  2 in total

Review 1.  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

2.  Structural basis of fumarate hydratase deficiency.

Authors:  Sarah Picaud; Kathryn L Kavanagh; Wyatt W Yue; Wen Hwa Lee; Susanne Muller-Knapp; Opher Gileadi; James Sacchettini; Udo Oppermann
Journal:  J Inherit Metab Dis       Date:  2011-03-29       Impact factor: 4.982
  2 in total

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