Literature DB >> 8739942

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

H D Bakker1, C Van den Bogert, H R Scholte, R Zwart, F A Wijburg, J N Spelbrink.   

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Year:  1996        PMID： 8739942     DOI： 10.1007/bf01799406

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


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  7 in total

1.  Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues.

Authors:  C Van den Bogert; H De Vries; M Holtrop; P Muus; H L Dekker; M J Van Galen; P A Bolhuis; J W Taanman
Journal:  Biochim Biophys Acta       Date:  1993-09-13

Review 2.  Mitochondrial encephalomyopathies.

Authors:  S DiMauro; C T Moraes
Journal:  Arch Neurol       Date:  1993-11

3.  NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators.

Authors:  C A Virbasius; J V Virbasius; R C Scarpulla
Journal:  Genes Dev       Date:  1993-12       Impact factor: 11.361

4.  The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines.

Authors:  J N Spelbrink; C Van den Bogert
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

5.  Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.

Authors:  L G Nijtmans; P G Barth; C R Lincke; M J Van Galen; R Zwart; P Klement; P A Bolhuis; W Ruitenbeek; R J Wanders; C Van den Bogert
Journal:  Biochim Biophys Acta       Date:  1995-04-24

6.  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

7.  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
  7 in total
  2 in total

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

Authors:  N J Manning; S E Olpin; R J Pollitt; M Downing; A F Heeley; I D Young
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982

2.  Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.

Authors:  G M Poggi; E Lamantea; F Ciani; M A Donati; F Carrara; L Bartalena; B Garavaglia; E Zammarchi
Journal:  J Inherit Metab Dis       Date:  2000-11       Impact factor: 4.982
  2 in total

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