Results 101 to 110 of about 717 (150)

Prevalence of clinical manifestations among patients with hypophosphatasia in Central and Eastern European countries

Frontiers in Endocrinology
Mini-abstractHypophosphatasia (HPP) is a rare systemic disorder with impaired bone mineralization. In 49 Central and Eastern European patients, chronic pain, fractures, deformities, and calcifying periarthritis were frequent.
M. Kužma, J. Payer, R. Petrovič, A. Bandura, M. Szegedi, I. Dzivite-Krišane, M. Žerjav Tanšek, J. Haschka, H. Resch, R. Kocijan, R. Kocijan   +10 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

A Hidden Cause of Bone Fragility: Late Diagnosis of Hypophosphatasia in a 40-Year-Old Female [PDF]

Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Keshk, Menna, Mohamed, Mohmed, Hassan, Ahmed Hassan, Kela, Genevieve, Hassan, Ahmed   +4 more
core   +2 more sources

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

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

Effects of comorbid chronic kidney disease on late-onset hypophosphatasia mice under treatment with asfotase alfa. [PDF]

JBMR Plus
Tokuhara C, Amadeu de Oliveira F, Narisawa S, Lira Dos Santos EJ, Foster BL, Millan JL.   +5 more
europepmc   +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

Change in fracture rate and healthcare resource utilization among patients with hypophosphatasia following initiation of asfotase alfa: a retrospective US claims database analysis. [PDF]

JBMR Plus
Lyons G, Bates T, Vlasnik J, Wakeford C, Donckels EA, Chan PK, Robinson SB, Dahir KM.   +7 more
europepmc   +1 more source

Key Learnings from Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval. [PDF]

Adv Ther
Khan AA, Rush ET, Wakeford C, Staub D, Brandi ML.   +4 more
europepmc   +1 more source