منابع مشابه
Inherited mitochondrial optic neuropathies
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families ha...
متن کاملInherited defects of mitochondrial fatty acid oxidation.
soma1 oxidase ( H 2 0 , production). Nevertheless, mitochondrial oxidation of sebacyl-carnitine could be recorded. This activity was 10-20% of that measured in the same mitochondrial preparation with palmitoyl-CoA ( + L-carnitine) or decanoyl-carnitine. Further, there was no indication of interference by sebacyl-CoA with carnitine palmitoyltransferase. In conclusion, intravenously infused dodec...
متن کاملCollapsing glomerulopathy associated with inherited mitochondrial injury.
Laura Barisoni1, Francesca Diomedi-Camassei2, Filippo M. Santorelli3, Gianluca Caridi4, David B. Thomas5, Francesco Emma6, Fiorella Piemonte7 and Gian Marco Ghiggeri4 1Department of Pathology and Medicine, New York University, New York, New York, USA; 2Division of Pathology, Department of Laboratory Medicine, Bambino Gesu` Children’s Hospital and Research Institute, Rome, Italy; 3Division of Mo...
متن کاملInherited interstitial lung disease.
This article focuses on recent advances in the identification of genes and genetic polymorphisms that have been implicated in the development of human interstitial lung diseases. It focuses on the inherited mendelian diseases in which pulmonary fibrosis is part of the clinical phenotype and the genetics of familial idiopathic pulmonary fibrosis and other rare inherited interstitial lung disease...
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ژورنال
عنوان ژورنال: Paediatrics and Child Health
سال: 2019
ISSN: 1751-7222
DOI: 10.1016/j.paed.2019.01.009