Literature DB >> 10484787

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.

P G Barth, R J Wanders, P Vreken.   

Abstract

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Year:  1999        PMID： 10484787     DOI： 10.1016/s0022-3476(99)70118-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  20 in total

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Review 2.  Neutrophil disorders and their management.

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3.  Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

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Journal:  JIMD Rep       Date:  2014-04-23

4.  Cardiolipin-induced activation of pyruvate dehydrogenase links mitochondrial lipid biosynthesis to TCA cycle function.

Authors:  Yiran Li; Wenjia Lou; Vaishnavi Raja; Simone Denis; Wenxi Yu; Michael W Schmidtke; Christian A Reynolds; Michael Schlame; Riekelt H Houtkooper; Miriam L Greenberg
Journal:  J Biol Chem       Date:  2019-06-11       Impact factor: 5.157

5.  Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome.

Authors:  Katrin Brandner; David U Mick; Ann E Frazier; Rebecca D Taylor; Chris Meisinger; Peter Rehling
Journal:  Mol Biol Cell       Date:  2005-08-31       Impact factor: 4.138

Review 6.  A practical approach for the diagnosis and management of dilated cardiomyopathy.

Authors:  R Krishna Kumar
Journal:  Indian J Pediatr       Date:  2002-04       Impact factor: 1.967

7.  Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.

Authors:  Martin D Burkhalter; Arthi Sridhar; Pedro Sampaio; Raquel Jacinto; Martina S Burczyk; Cornelia Donow; Max Angenendt; Maja Hempel; Paul Walther; Petra Pennekamp; Heymut Omran; Susana S Lopes; Stephanie M Ware; Melanie Philipp
Journal:  J Clin Invest       Date:  2019-05-16       Impact factor: 14.808

8.  Neutropenia in Barth syndrome: characteristics, risks, and management.

Authors:  Colin G Steward; Sarah J Groves; Carolyn T Taylor; Melissa K Maisenbacher; Birgitta Versluys; Ruth A Newbury-Ecob; Hulya Ozsahin; Michaela K Damin; Valerie M Bowen; Katherine R McCurdy; Michael C Mackey; Audrey A Bolyard; David C Dale
Journal:  Curr Opin Hematol       Date:  2019-01       Impact factor: 3.284

9.  A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

Authors:  Yuxin Fan; Jon Steller; Iris L Gonzalez; Wim Kulik; Michelle Fox; Richard Chang; Brandy A Westerfield; Anjan S Batra; Raymond Yu Jeang Wang; Natalie M Gallant; Liana S Pena; Hu Wang; Taosheng Huang; Sunita Bhuta; Daniel J Penny; Edward R McCabe; Virginia E Kimonis
Journal:  JIMD Rep       Date:  2013-04-19

10.  Loss of tafazzin in yeast leads to increased oxidative stress during respiratory growth.

Authors:  Shuliang Chen; Quan He; Miriam L Greenberg
Journal:  Mol Microbiol       Date:  2008-05       Impact factor: 3.501
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