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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2010
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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 |
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