Literature DB >> 23783016

Evaluation of the child with suspected mitochondrial liver disease.

Jean P Molleston1, Ronald J Sokol, Wikrom Karnsakul, Alexander Miethke, Simon Horslen, John C Magee, René Romero, Robert H Squires, Johan L K Van Hove.   

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Year:  2013        PMID： 23783016      PMCID： PMC3810178          DOI： 10.1097/MPG.0b013e31829ef67a

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  50 in total

Review 1.  Mitochondrial respiratory-chain diseases.

Authors:  Salvatore DiMauro; Eric A Schon
Journal:  N Engl J Med       Date:  2003-06-26       Impact factor: 91.245

2.  Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Authors:  Sarah E Calvo; Alison G Compton; Steven G Hershman; Sze Chern Lim; Daniel S Lieber; Elena J Tucker; Adrienne Laskowski; Caterina Garone; Shangtao Liu; David B Jaffe; John Christodoulou; Janice M Fletcher; Damien L Bruno; Jack Goldblatt; Salvatore Dimauro; David R Thorburn; Vamsi K Mootha
Journal:  Sci Transl Med       Date:  2012-01-25       Impact factor: 17.956

3.  Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

Authors:  R Van Coster; J Smet; E George; L De Meirleir; S Seneca; J Van Hove; G Sebire; H Verhelst; J De Bleecker; B Van Vlem; P Verloo; J Leroy
Journal:  Pediatr Res       Date:  2001-11       Impact factor: 3.756

4.  Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Authors:  Joél Smet; Sara Seneca; Boel De Paepe; Ann Meulemans; Helene Verhelst; Jules Leroy; Linda De Meirleir; Willy Lissens; Rudy Van Coster
Journal:  Electrophoresis       Date:  2009-10       Impact factor: 3.535

Review 5.  Pharmacologic effects on mitochondrial function.

Authors:  Bruce H Cohen
Journal:  Dev Disabil Res Rev       Date:  2010

Review 6.  Disorders of carnitine transport and the carnitine cycle.

Authors:  Nicola Longo; Cristina Amat di San Filippo; Marzia Pasquali
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-05-15       Impact factor: 3.908

7.  Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.

Authors:  David P Dimmock; J Kay Dunn; Annette Feigenbaum; Anthony Rupar; Rita Horvath; Peter Freisinger; Bénédicte Mousson de Camaret; Lee-Jun Wong; Fernando Scaglia
Journal:  Liver Transpl       Date:  2008-10       Impact factor: 5.799

8.  Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Authors:  Anna H Hakonen; Pirjo Isohanni; Anders Paetau; Riitta Herva; Anu Suomalainen; Tuula Lönnqvist
Journal:  Brain       Date:  2007-10-05       Impact factor: 13.501

9.  Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Authors:  S E Olpin; A Afifi; S Clark; N J Manning; J R Bonham; A Dalton; J V Leonard; J M Land; B S Andresen; A A Morris; F Muntoni; D Turnbull; M Pourfarzam; S Rahman; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 10.  The in-depth evaluation of suspected mitochondrial disease.

Authors:  Richard H Haas; Sumit Parikh; Marni J Falk; Russell P Saneto; Nicole I Wolf; Niklas Darin; Lee-Jun Wong; Bruce H Cohen; Robert K Naviaux
Journal:  Mol Genet Metab       Date:  2008-02-01       Impact factor: 4.797
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  8 in total

1.  Lactate and Lactate: Pyruvate Ratio in the Diagnosis and Outcomes of Pediatric Acute Liver Failure.

Authors:  Amy G Feldman; Ronald J Sokol; Regina M Hardison; Estella M Alonso; Robert H Squires; Michael R Narkewicz
Journal:  J Pediatr       Date:  2017-01-12       Impact factor: 4.406

Review 2.  Cirrhosis in children and adolescents: An overview.

Authors:  Raquel Borges Pinto; Ana Claudia Reis Schneider; Themis Reverbel da Silveira
Journal:  World J Hepatol       Date:  2015-03-27

3.  Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis.

Authors:  Anne Davit-Spraul; Marine Beinat; Dominique Debray; Agnes Rötig; Abdelhamid Slama; Emmanuel Jacquemin
Journal:  JIMD Rep       Date:  2013-11-09

4.  Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.

Authors:  C Alexander Valencia; Xinjian Wang; Jin Wang; Anna Peters; Julia R Simmons; Molly C Moran; Abhinav Mathur; Ammar Husami; Yaping Qian; Rachel Sheridan; Kevin E Bove; David Witte; Taosheng Huang; Alexander G Miethke
Journal:  PLoS One       Date:  2016-08-02       Impact factor: 3.240

5.  Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

Authors:  Patrick McKiernan; Sarah Ball; Saikat Santra; Katherine Foster; Carl Fratter; Joanna Poulton; Kate Craig; Robert McFarland; Shamima Rahman; Iain Hargreaves; Girish Gupte; Khalid Sharif; Robert W Taylor
Journal:  J Pediatr Gastroenterol Nutr       Date:  2016-12       Impact factor: 2.839

6.  NBAS mutations cause acute liver failure: when acetaminophen is not a culprit.

Authors:  Pier Luigi Calvo; Francesco Tandoi; Tobias B Haak; Andrea Brunati; Michele Pinon; Dominic Dell Olio; Renato Romagnoli; Marco Spada
Journal:  Ital J Pediatr       Date:  2017-09-25       Impact factor: 2.638

Review 7.  Mitochondrial hepatopathy: Respiratory chain disorders- 'breathing in and out of the liver'.

Authors:  Amrit Gopan; Moinak Sen Sarma
Journal:  World J Hepatol       Date:  2021-11-27

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
  8 in total

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