Výsledky vyhledávání - "J. Edmund Wraith"

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype

Autor: Fiona Stewart, Claire M. Thornton, J Edmund Wraith, Alan Cooper, Heather J. Church

Publikováno v: European Journal of Human Genetics. 12:975-978

Acute neuronopathic Gaucher's disease is classically considered to be a disease of late infancy, but also includes a spectrum of variant phenotypes such as perinatal lethal hydrops, or the collodian baby phenotype in the newborn period. These extreme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4aaa0cc6ca2f2b5aedb96697968862
https://doi.org/10.1038/sj.ejhg.5201251

Zobrazit plný text záznamu

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy

Autor: Penelope E. Stein, Derralynn Hughes, Patrick Deegan, Atul Mehta, J. Edmund Wraith, Timothy M. Cox, Philip Bearcroft, Jane Tindall, Elena Pavlova

Publikováno v: Medicine. 90(1)

Enzyme replacement therapy (ERT) for Gaucher disease with mannose-terminated glucocerebrosidase has proved its therapeutic position with salutary effects on hematologic abnormalities, visceral infiltration, and quality of life. The frequency of new b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9417d3ccc1b0f30dfa3d42540f6ad038
https://pubmed.ncbi.nlm.nih.gov/21200186

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání