Literature DB >> 11117438

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

G M Poggi1, E Lamantea, F Ciani, M A Donati, F Carrara, L Bartalena, B Garavaglia, E Zammarchi.   

Abstract

Mesh：

Substances：

Year:  2000        PMID： 11117438     DOI： 10.1023/a:1005663804214

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


× No keyword cloud information.
  5 in total

1.  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

2.  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

3.  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

4.  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

5.  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
  5 in total
  1 in total

1.  Clinical and molecular features of mitochondrial DNA depletion syndromes.

Authors:  A Spinazzola; F Invernizzi; F Carrara; E Lamantea; A Donati; M Dirocco; I Giordano; M Meznaric-Petrusa; E Baruffini; I Ferrero; M Zeviani
Journal:  J Inherit Metab Dis       Date:  2008-12-27       Impact factor: 4.982
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.