Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia

Autor:	Hiroshi Fujiwara, Yusuke Mitani, Yo Niida, Yuka Ishijima, Masanori Ono, Kyohei Nakade, Kyosuke Kagami, Takashi Iizuka, Sakiko Masumoto, Atsushi Watanabe, Rena Yamazaki
Rok vydání:	2019
Předmět:	Adult medicine.medical_specialty Hypophosphatasia Prenatal diagnosis Gastroenterology 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Internal medicine medicine Humans Enzyme Replacement Therapy Loss function Kidney 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology ALPL Enzyme replacement therapy medicine.disease Pregnancy Complications medicine.anatomical_structure 030220 oncology & carcinogenesis Alkaline phosphatase Female business
Zdroj:	Journal of Obstetrics and Gynaecology. 40:132-134
ISSN:	1364-6893 0144-3615
DOI:	10.1080/01443615.2019.1606177
Popis:	Hypophosphatasia (HPP) is a rare disorder which is caused by loss of function mutations within the alkaline phosphatase, liver/bone/kidney gene (ALPL), which encodes the tissue non-specific isoenzy...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09c585fb4a7b7513be33f3dec83637e7 https://doi.org/10.1080/01443615.2019.1606177 Zobrazit plný text záznamu