Literature DB >> 19103785

Diagnosis of mitochondrial DNA depletion syndromes.

Shamima Rahman1, Joanna Poulton.   

Abstract

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Year:  2009        PMID： 19103785     DOI： 10.1136/adc.2008.147983

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  18 in total

1.  Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Authors:  Brian Bennett; Daniel Helbling; Hui Meng; Jason Jarzembowski; Aron M Geurts; Marisa W Friederich; Johan L K Van Hove; Michael W Lawlor; David P Dimmock
Journal:  Free Radic Biol Med       Date:  2016-01-08       Impact factor: 7.376

2.  Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.

Authors:  Natalia Papeta; Zongyu Zheng; Eric A Schon; Sonja Brosel; Mehmet M Altintas; Samih H Nasr; Jochen Reiser; Vivette D D'Agati; Ali G Gharavi
Journal:  J Clin Invest       Date:  2010-10-18       Impact factor: 14.808

3.  Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Authors:  Tuomas Komulainen; Milla-Riikka Hautakangas; Reetta Hinttala; Salla Pakanen; Vesa Vähäsarja; Petri Lehenkari; Päivi Olsen; Päivi Vieira; Outi Saarenpää-Heikkilä; Johanna Palmio; Hannu Tuominen; Pietari Kinnunen; Kari Majamaa; Heikki Rantala; Johanna Uusimaa
Journal:  JIMD Rep       Date:  2015-05-05

Review 4.  Emerging aspects of treatment in mitochondrial disorders.

Authors:  Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2015-05-12       Impact factor: 4.982

Review 5.  Gastrointestinal and hepatic manifestations of mitochondrial disorders.

Authors:  Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2013-05-15       Impact factor: 4.982

6.  Antenatal manifestations of mitochondrial disorders.

Authors:  Mariana Vide Tavares; Maria João Santos; Ana Patrícia Domingues; João Pratas; Cândida Mendes; Marta Simões; Paulo Moura; Luísa Diogo; Manuela Grazina
Journal:  J Inherit Metab Dis       Date:  2013-01-30       Impact factor: 4.982

Review 7.  Neonatal liver failure: aetiologies and management--state of the art.

Authors:  Naresh P Shanmugam; Sanjay Bansal; Anne Greenough; Anita Verma; Anil Dhawan
Journal:  Eur J Pediatr       Date:  2010-10-02       Impact factor: 3.860

Review 8.  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Authors:  Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822

9.  Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Authors:  Robert D S Pitceathly; Conrad Smith; Carl Fratter; Charlotte L Alston; Langping He; Kate Craig; Emma L Blakely; Julie C Evans; John Taylor; Zarfishan Shabbir; Marcus Deschauer; Ute Pohl; Mark E Roberts; Matthew C Jackson; Christopher A Halfpenny; Peter D Turnpenny; Peter W Lunt; Michael G Hanna; Andrew M Schaefer; Robert McFarland; Rita Horvath; Patrick F Chinnery; Douglass M Turnbull; Joanna Poulton; Robert W Taylor; Gráinne S Gorman
Journal:  Brain       Date:  2012-10-29       Impact factor: 13.501

10.  Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care.

Authors:  Samuel A Crawford; Cynthia L Gong; Leah Yieh; Linda M Randolph; Joel W Hay
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822
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