Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 554 citations · Full text

Fetal lung hypoplasia: biochemical and structural variations and their possible significance.

J. S. Wigglesworth, R. Desai, Pietro Guerrini · Archives of Disease in Childhood · 1981 · 269 citations · Full text

Fetal Lung Hypoplasia, Structural Variations, Developmental Biology +14

Utility of the Kyoto Scale of Psychological Development in cognitive assessment of children with pervasive developmental disorders

Tomonori Koyama, Hirokazu Osada, Hiromi Tsujii et al. · Psychiatry and Clinical Neurosciences · 2009 · 135 citations

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

Étienne Mornet, A. Taillandier, S Peyramaure et al. · European Journal of Human Genetics · 1998 · 124 citations · Full text

Biology, Genetic Disorder, Genetics +9

Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: Results in three additional patients

Michael P. Whyte, William H. McAlister, Lance S. Patton et al. · The Journal of Pediatrics · 1984 · 87 citations

Enzyme Replacement Therapy, Inherited Metabolic Disease, Infantile Hypophosphatasia +3