Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia-Reference-Cited by-同舟云学术

Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia

Published:2019-07-23 Issue:1 Volume:40 Page:132-134
ISSN:0144-3615
Container-title:Journal of Obstetrics and Gynaecology
language:en
Short-container-title:Journal of Obstetrics and Gynaecology

Author:

Ishijima Yuka¹,Iizuka Takashi¹,Kagami Kyosuke¹,Masumoto Sakiko¹,Nakade Kyohei¹,Mitani Yusuke²,Niida Yo³,Watanabe Atsushi⁴,Yamazaki Rena¹,Ono Masanori¹,Fujiwara Hiroshi¹

Affiliation:

1. Department of Obstetrics and Gynaecology, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan;

2. Department of Pediatrics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan;

3. Center for Clinical Genomics, Kanazawa Medical University Hospital, Uchinada, Japan;

4. Clinical Genetics, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan

Publisher

Informa UK Limited

Subject

Obstetrics and Gynecology

Link

https://www.tandfonline.com/doi/pdf/10.1080/01443615.2019.1606177

Reference10 articles.

1. Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia

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

3. Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia

4. Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers