Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

Autor:	J. C. Deybach, D. Amram, L. N. Phung, D. Lesbros, Y. Nordmann
Rok vydání:	1990
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Aging Coproporphyrins Erythrocytes Porphyrins Congenital erythropoietic porphyria Hemolysis Gunther disease Feces Porphyrias Internal medicine Genetics medicine Humans skin and connective tissue diseases Genetics (clinical) business.industry nutritional and metabolic diseases Infant Aminolevulinic Acid Syndrome medicine.disease Dermatology Hereditary coproporphyria Porphyria Endocrinology Female business
Zdroj:	Journal of inherited metabolic disease. 13(5)
ISSN:	0141-8955
Popis:	We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Gunther disease). Enzyme studies confirmed this new type of dual porphyria.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7ca41acb09f38f08b5a6bd5c17002d https://pubmed.ncbi.nlm.nih.gov/2246853 Zobrazit plný text záznamu Full text from SpringerLink Plný text