Perinatal hypophosphatasia caused by uniparental isodisomy

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 566 citations · Full text

Medicine, Pediatrics, Pharmacotherapy +17

Cytogenetic contribution to uniparental disomy (UPD)

Thomas Liehr · Molecular Cytogenetics · 2010 · 185 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia

Toshimi Michigami, Takayuki Uchihashi, Akira Suzuki et al. · European Journal of Pediatrics · 2005 · 88 citations

Life Sciences, Genetics, Molecular Genetics +12

CD45-deficient severe combined immunodeficiency caused by uniparental disomy

Joseph L. Roberts, Rebecca H. Buckley, Biao Luo et al. · Proceedings of the National Academy of Sciences · 2012 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

Edward Leung, Aizeddin A. Mhanni, Martin H. Reed et al. · JIMD Reports · 2013 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +17