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Irish Child Health Database - Peer Reviewed Papers

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Irish Child Health Database » » B » Brain Diseases, Metabolic/enzymology/genetics

Brain Diseases, Metabolic/enzymology/genetics

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  • 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

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