Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion
Author:
Publisher
BMJ
Subject
General Medicine
Reference24 articles.
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2. Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations;Nelson;Neuropediatrics,1992
3. Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study;Yamadori;Acta Neuropathol,1992
4. Thiamine-responsive anemia in DIDMOAD syndrome;Borgna-Pignatti;J Pediatr,1989
5. Oxidative phosphorylation defect associated with primary adrenal insufficiency;North;J Pediatr,1996
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1. Adrenal Dysfunction in Mitochondrial Diseases;International Journal of Molecular Sciences;2023-01-06
2. New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2;Frontiers in Immunology;2019-03-21
3. Growth-hormone deficiency in mitochondrial disorders;Journal of Pediatric Endocrinology and Metabolism;2017-01-01
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