These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Gunther's congenital erythropoietic porphyria in an 8-month old girl (author's transl)].
    Author: Mascaro-Galy C, Mascaro JM, Albero F.
    Journal: Ann Dermatol Venereol; 1977 Jan; 104(1):32-7. PubMed ID: 843024.
    Abstract:
    A typical case of congenital erythropoietic porphyria in a 8 month old girl is reported (photosensitive blistering syndrome, hypertrichosis; erythrodontia; fluorescence of urine, teeth, erythrocytes and myeloblasts; splenomegaly; anaemia). Porphyrins, isomers I, were present in urine and blood. In faeces a porphyrin-X-like substance migrating as PX was detected; this porphyrin was finally identified as CP I unusually difficult to extract because of the presence of a banding and fluorescence quenching agent probably of exogenous origin. The usual methods are not always able to extract and to identify the faecal porphyrins.
    [Abstract] [Full Text] [Related] [New Search]