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4. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. Cantlay AM; Shokrollahi K; Allen JT; Lunt PW; Newbury-Ecob RA; Steward CG J Pediatr; 1999 Sep; 135(3):311-5. PubMed ID: 10484795 [TBL] [Abstract][Full Text] [Related]
5. Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome. Sakamoto O; Kitoh T; Ohura T; Ohya N; Iinuma K J Hum Genet; 2002; 47(5):229-31. PubMed ID: 12032589 [TBL] [Abstract][Full Text] [Related]
6. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. Valianpour F; Wanders RJ; Overmars H; Vreken P; Van Gennip AH; Baas F; Plecko B; Santer R; Becker K; Barth PG J Pediatr; 2002 Nov; 141(5):729-33. PubMed ID: 12410207 [TBL] [Abstract][Full Text] [Related]
7. Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. Ostman-Smith I; Brown G; Johnson A; Land JM Br Heart J; 1994 Oct; 72(4):349-53. PubMed ID: 7833193 [TBL] [Abstract][Full Text] [Related]
8. Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation. Kirwin SM; Vinette KM; Schwartz SB; Funanage VL; Gonzalez IL Fertil Steril; 2007 Apr; 87(4):976.e5-7. PubMed ID: 17241629 [TBL] [Abstract][Full Text] [Related]
12. Barth syndrome is associated with a cognitive phenotype. Mazzocco MM; Henry AE; Kelly RI J Dev Behav Pediatr; 2007 Feb; 28(1):22-30. PubMed ID: 17353728 [TBL] [Abstract][Full Text] [Related]
13. Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients. McKenzie M; Lazarou M; Thorburn DR; Ryan MT J Mol Biol; 2006 Aug; 361(3):462-9. PubMed ID: 16857210 [TBL] [Abstract][Full Text] [Related]
15. Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients. Tassone L; Notarangelo LD; Bonomi V; Savoldi G; Sensi A; Soresina A; Smith CI; Porta F; Plebani A; Notarangelo LD; Badolato R J Allergy Clin Immunol; 2009 May; 123(5):1170-3, 1173.e1-3. PubMed ID: 19321197 [No Abstract] [Full Text] [Related]
16. Cardiomyopathy in a child with neutropenia and motor delay. McCanta AC; Chang AC; Weiner K Curr Opin Pediatr; 2008 Oct; 20(5):605-7. PubMed ID: 18781126 [TBL] [Abstract][Full Text] [Related]
17. Off-label use of granulocyte colony-stimulating factor in noncongenital neutropenia: retrospective data from the Italian Neutropenia Registry. Fioredda F; Calvillo M; Renga D; Bonanomi S; Ciliberti A; Martire B; Ghilardi R; Dufour C Pediatr Hematol Oncol; 2008 Jun; 25(4):371-4. PubMed ID: 18484485 [No Abstract] [Full Text] [Related]