Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations-Reference-Cited by-同舟云学术

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Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations

Published:2019-06 Issue: Volume:19 Page:100457
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Moghe A.,Ramanujam V.M.S.,Phillips J.D.,Desnick R.J.,Anderson K.E.

Funder

National Institutes of Health

University of Texas Medical Branch

Clinical and Translational Science Award

National Center for Advancing Translational Sciences

American Porphyria Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference15 articles.

1. The porphyrias (Chapter 58);Phillips,2016

2. Structural basis of hereditary coproporphyria;Lee;Proc. Natl. Acad. Sci. U. S. A.,2005

3. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium;Bonkovsky;Am. J. Med.,2014

4. Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria;Schmitt;Hum. Mol. Genet.,2005

5. Harderoporphyria: a variant hereditary coproporphyria;Nordmann;J. Clin. Invest.,1983

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