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Morphological correlates of mitochondrial dysfunction in children.
Chow CW, Thorburn DR. Chow CW, et al. Hum Reprod. 2000 Jul;15 Suppl 2:68-78. doi: 10.1093/humrep/15.suppl_2.68. Hum Reprod. 2000. PMID: 11041514 Review.
Morphological studies have traditionally played a major role in the study of adults with suspected mitochondrial diseases. Here we review their role in the investigation of paediatric patients. ...On the other hand, dramatic ultrastructural changes involving the mitochondr …
Morphological studies have traditionally played a major role in the study of adults with suspected mitochondrial diseases. Here we re …
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.
Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ. Barth PG, et al. Am J Med Genet A. 2004 May 1;126A(4):349-54. doi: 10.1002/ajmg.a.20660. Am J Med Genet A. 2004. PMID: 15098233 Review.
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional impairments and 3-methylglutaconic aciduria that maps to Xq28. ...We report here the finding of deficient docosahexaenoic acid and arachido …
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM302060, BTHS) is a disorder with mitochondrial functional …