Results 101 to 110 of about 714 (150)

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

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

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

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   +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

Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child. [PDF]

Cureus
Terayama S, Kobayashi M, Suemitsu T, Samura O, Oishi K.   +4 more
europepmc   +1 more source

AN ADJUNCTIVE USE OF ASFOTASE ALFA AND ZOLEDRONIC ACID AFTER SPINAL SURGERY IN NEUROFIBROMATOSIS TYPE 1 RELATED DYSTROPHIC SCOLIOSIS. [PDF]

AACE Clin Case Rep, 2020
Harindhanavudhi T, Takahashi T, Petryk A, Polly DW.   +3 more
europepmc   +1 more source