Skip Navigation, or press ALT and K together and then press enter.Welcome to the OMC website. This site has been developed for both the visually impaired and non visually impaired. If you would like to use the visually impaired version of this site please go to, or press ALT and I together and then press enter

Irish Child Health Database - Peer Reviewed Papers

Database Search

Irish Child Health Database » » C » Calcinosis/enzymology/genetics


Your search returns 1 documents

  • 1.   Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome

    These case reports discuss the cases of 2 related Irish families with clinically severe carbonic anhydrase II deficiency syndrome deficiency in whom the gene mutation has been fully elucidated

    Blood, Vol: 97 Page: 1947-50 April 2001
    C. McMahon; A. Will; P. Hu; G. N. Shah; W. S. Sly; O. P. Smith

    [Preview] [Read]