HuGE Literature Finder
|
Records 1-7
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
European journal of internal medicine 2016 Jan . Riancho-Zarrabeitia Leyre, García-Unzueta Mayte, Tenorio Jair A, Gómez-Gerique Juan A, Ruiz Pérez Víctor L, Heath Karen E, Lapunzina Pablo, Riancho José |
Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
Clinical biochemistry 2014 Oct 47 (15): 60-7. Dabisch-Ruthe Mareike, Brock Alexander, Kuzaj Patricia, Charbel Issa Peter, Szliska Christiane, Knabbe Cornelius, Hendig Dor |
A study of the association between serum bone-specific alkaline phosphatase and serum phosphorus concentration or dietary phosphorus intake.
Journal of nutritional science and vitaminology 2012 58 (6): 442-5. Haraikawa Mayu, Tanabe Rieko, Sogabe Natsuko, Sugimoto Aoi, Kawamura Yuka, Michigami Toshimi, Hosoi Takayuki, Goseki-Sone Mas |
A molecular-based estimation of the prevalence of hypophosphatasia in the European population.
Annals of human genetics 2011 May 75 (3): 439-45. Mornet Etienne, Yvard Alice, Taillandier Agnes, Fauvert Delphine, Simon-Bouy Brigit |
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Journal of human genetics 2011 Feb 56 (2): 166-8. Watanabe Atsushi, Karasugi Tatsuki, Sawai Hideaki, Naing Banyar Than, Ikegawa Shiro, Orimo Hideo, Shimada Takas |
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
BMC medical genetics 2009 10 (1): 51. Fauvert Delphine, Brun-Heath Isabelle, Lia-Baldini Anne-Sophie, Bellazi Linda, Taillandier Agnès, Serre Jean-Louis, de Mazancourt Philippe, Mornet Etien |
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
European journal of pediatrics 2005 May 164 (5): 277-82. Michigami Toshimi, Uchihashi Takayuki, Suzuki Akira, Tachikawa Kanako, Nakajima Shigeo, Ozono Keiic |
- Page last reviewed:Jul 30, 2019
- Page last updated:Dec 12, 2019
- Content source: