Results 71 to 80 of about 2,799 (170)

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

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

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +1 more source

Adult hypophosphatasia presenting with recurrent acute joint pain

Endocrinology, Diabetes & Metabolism Case Reports
Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in
Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto   +11 more
doaj   +1 more source

Infantile Hypophosphatasia

Annals of Saudi Medicine, 1999
A C, Biswas, R A, Al Khlaif, M, Maleque Molla   +2 more
openaire   +2 more sources

Infantile hypophosphatasia caused by compound heterozygous variants in the <i>ALPL</i> gene: a case report. [PDF]

Am J Transl Res
Wu Q, Xiang M, Xiong W, Wang B, Wu S, Chen M.   +5 more
europepmc   +1 more source

A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia. [PDF]

J Bone Miner Res
Seefried L, Bernholz J, Kraan M, Nitschke Y, Rutsch F, Mallek M, Kleinert S, Genest F.   +7 more
europepmc   +1 more source

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. [PDF]

J Bone Miner Res
Webb RF, McCurry H, Girod A, Hughes M, Wilcox E, Patel M, Broeren EC, Tshering KC, DiStefano M, Botto LD, Burrage LC, Cormier-Daire V, Dong J, Ehmke N, Krakow D, Moosa S, Mortier G, Nagamani S, Pena L, Sanchez-Lara PA, Superti-Furga A, Unger S, Velasco D, Warman ML, Brown K, D'Cunha Burkardt D, Ferreira CR, ClinGen Skeletal Disorders Gene Curation Expert Panel.   +27 more
europepmc   +1 more source

Interpreting Low Alkaline Phosphatase in Fibromyalgia: The Importance of Comprehensive Clinical and Biochemical Assessment. [PDF]

Med Princ Pract
Rodríguez Araya T, Peris P.
europepmc   +1 more source

Persistently Low Alkaline Phosphatase in Fibromyalgia: Hypophosphatasia or Confounding Clinical Context? [PDF]

Med Princ Pract
Harman H.
europepmc   +1 more source