Results 171 to 180 of about 6,701 (243)

Diagnosis and Treatment of Hypophosphatasia. [PDF]

Calcif Tissue Int
Seefried L, Genest F, Hofmann C, Brandi ML, Rush E.   +4 more
europepmc   +1 more source

Perinatal form hypophosphatasia caused by a novel large duplication of ALPL gene and one year follow-up under enzyme replacement therapy; a case report

, 2018
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşah Acar, Serdar Cömert   +5 more
openalex   +1 more source

Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities. [PDF]

Clin Pediatr Endocrinol
Kanno J, Nakagawa T, Miura A, Shima H, Sogi C, Kamimura M, Fujiwara I, Tachikawa K, Hino R, Michigami T, Kikuchi A.   +10 more
europepmc   +1 more source

A case of perinatal hypophosphatasia with a novel mutation in the <i>ALPL</i> gene: clinical course and review of the literature

, 2018
Maki Oyachi, Daisuke Harada, Natsuko Sakamoto, Kaoru Ueyama, Kawai Kondo, Kanako Kishimoto, Masafumi Izui, Yuiko Nagamatsu, Hiroko Kashiwagi, Miho Yamamuro, Makoto Tamura, Shin Kikuchi, Tomoyuki Akiyama, Toshimi Michigami, Yoshiki Seino, Noriyuki Namba   +15 more
openalex   +2 more sources

Hypophosphatasia: The Unusual Presentation

Journal of Clinical Research in Pediatric Endocrinology, 2020
openaire   +4 more sources

Enzyme Replacement Therapy In Hypophosphatasia

, 2018
Seyit Ahmet Uçaktürk, Selin Elmaoğulları, Sevim Ünal, Deniz Gönülal, Eda Mengen   +4 more
openalex   +2 more sources

How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience. [PDF]

Orphanet J Rare Dis
Dudde F, Fildebrandt D, Petz K, Smeets R, Gosau M, Amling M, Beikler T, Barvencik F.   +7 more
europepmc   +1 more source

Prenatal Diagnosis of Severe Perinatal (Lethal) Hypophosphatasia [PDF]

, 2012
Atsushi Watanabe, Hideo Orimo, Takashi Shimada, Toshiyuki Takeshita   +3 more
core   +1 more source

Clinical and biochemical characteristics of adults with hypophosphatasia attending a metabolic bone clinic

, 2020
Robert Desborough, Philip Nicklin, Fatma Gossiel, Meena Balasubramanian, Jennifer Walsh, Anna Petryk, Megan Teynor, Richard Eastell   +7 more
openalex   +1 more source

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients

, 2019
Katsuyuki Yokoi, Yoko Nakajima, Yasuko Shinkai, Yoshimi Sano, Mototaka Imamura, Tomoyuki Akiyama, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi   +8 more
openalex   +1 more source