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Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases

Hypophosphatasia is a rare inherited disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. It is classified into 6 subtypes, and the perinatal lethal form of hypophosphatasia is the most severe. Patients with this form suffer from various symptoms, including respiratory fail...

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Detalles Bibliográficos
Autores principales: Nakamura-Utsunomiya, Akari, Okada, Satoshi, Hara, Keiichi, Miyagawa, Shinichiro, Takeda, Kanae, Fukuhara, Rie, Nakata, Yusei, Hayashidani, Michiko, Tachikawa, Kanako, Michigami, Toshimi, Ozono, Keiichi, Kobayashi, Masao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687616/
https://www.ncbi.nlm.nih.gov/pubmed/23926372
http://dx.doi.org/10.1297/cpe.19.7