Results 111 to 120 of about 937 (188)

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 more
doaj   +1 more source

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +1 more source

Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia

Orphanet Journal of Rare Diseases
Background Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is a progressive metabolic, genetic disease with wide clinical heterogeneity, ranging from perinatal lethality to mild or moderate localized symptoms.
Jorge Armando Rojas Martínez, Ana María Zarante Bahamón, Luz Victoria Salazar, Andrés Felipe Morales, María Fernanda Higuera Cristancho, Juliana Villanueva Congote, Ignacio Zarante Montoya, Lina María Gómez Espitia   +7 more
doaj   +1 more source

Monoclonal antibody anti-sclerostin for treatment of pelvic insufficiency fractures in adult hypophosphatasia: A case report

Trauma Case Reports
Hypophosphatasia is a rare inherited metabolic disease leading to inhibition of bone and teeth mineralization that can be complicated by multiple insufficiency fractures.
Pierre-Emmanuel Schwab, Alicia Dessain, Joshua Milby   +2 more
doaj   +1 more source

Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa. [PDF]

Osteoporos Int, 2021
Seefried L, Rak D, Petryk A, Genest F.
europepmc   +1 more source

Tissue Nonspecific Alkaline Phosphatase (TNAP) Regulates Cranial Base Growth and Synchondrosis Maturation [PDF]

, 2017
Hwa K. Nam, Jin Liu, Monika Sharma, Nan E. Hatch   +3 more
core   +1 more source

Cutaneous lesions in the setting of hypophosphatasia

JAAD Case Reports, 2023
Nancy W. Shen, BA, Lauren G. Yi, MD, Wilson Omesiete, MD, Christina M. Peroutka, MD, Shyam S. Raghavan, MD, Kenneth E. Greer, MD   +5 more
doaj   +1 more source

Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report. [PDF]

Clin Pediatr Endocrinol, 2021
Matsushita M, Mishima K, Nagata T, Kamiya Y, Imagama S, Kitoh H.   +5 more
europepmc   +1 more source

Visualization of asfotase alfa-binding to sites of calcification in vivo

Bone Reports, 2020
Flavia Amadeu de Oliveira, Sonoko Narisawa, Massimo Bottini, José Luis Millán   +3 more
doaj   +1 more source

Adult Hypophosphatasia in a Middle-Aged Patient With Recurrent Fractures: Prevention of New Fractures With Asfotase Alfa. [PDF]

JCEM Case Rep
Inoue R, Ishizawa K, Takamura Y, Kosokabe F, Takeuchi K, Inoue D.   +5 more
europepmc   +1 more source