Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency-Reference-Cited by-同舟云学术

Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency

Published:2015-06 Issue: Volume:3 Page:70-78
ISSN:2214-6474
Container-title:BBA Clinical
language:en
Short-container-title:BBA Clinical

Author:

Fujisawa Yasuko,Napoli Eleonora,Wong Sarah,Song Gyu,Yamaguchi Rie,Matsui Toshiharu,Nagasaki Keisuke,Ogata Tsutomu,Giulivi Cecilia

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Physiology (medical),Molecular Medicine,Pathology and Forensic Medicine

Reference105 articles.

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3. Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis;Thistlethwaite;Arch. Dis. Child.,1975

4. Absent aldosterone response to ACTH in familial glucocorticoid deficiency;Spark;N. Engl. J. Med.,1977

5. Familial glucocorticoid deficiency in a girl with familial hypophosphatemic rickets;Shah;Am. J. Dis. Child.,1988

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