Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts | Zendy

Ronan A. Cahill | Zendy; Deborah Wenkert | Zendy; Sharon A. Perlman | Zendy; Ann Steele | Zendy; Stephen P. Coburn | Zendy; William H. McAlister | Zendy; Steven Mumm | Zendy; Michael P. Whyte | Zendy

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Infantile Hypophosphatasia: Transplantation Therapy Trial Using Bone Fragments and Cultured Osteoblasts

Author(s) -

Ronan A. Cahill,

Deborah Wenkert,

Sharon A. Perlman,

Ann Steele,

Stephen P. Coburn,

William H. McAlister,

Steven Mumm,

Michael P. Whyte

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2131

Subject(s) - hypophosphatasia , transplantation , medicine , bone marrow , enzyme replacement therapy , alkaline phosphatase , osteoblast , rickets , pathology , biology , disease , biochemistry , enzyme , vitamin d and neurology , in vitro

Hypophosphatasia (HPP) is a rare, heritable, metabolic bone disease due to deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase. The infantile form features severe rickets often causing death in the first year of life from respiratory complications. There is no established medical treatment. In 1997, an 8-month-old girl with worsening and life-threatening infantile HPP improved considerably after marrow cell transplantation.

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