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Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review

Journal of Pharmacy and Bioallied Sciences, 2023
Hypophosphatasia (HPP) is a life-threatening disease that occurs due to the mutation of the TNSALP (Tissue nonspecific isoenzyme of alkaline phosphatase) encoding gene. There is no approved treatment for Hypophosphatasia.
N Jaswanthi, R Sindhu, P Nimmy, D Prabu, M RajMohan, V V Bharathwaj, Dinesh Dhamodhar, S Sathiyapriya   +7 more
doaj   +3 more sources

An Unusual Stress Fracture in an Archer with Hypophosphatasia [PDF]

Case Reports in Orthopedics, 2013
We report a 45-year-old male archer with stress fracture in his left ulna on the background of adult type of hypophosphatasia. The patient presented to several medical centers for pain around the left elbow and received medical treatment upon diagnosis ...
Umut Yavuz, Sami Sökücü, Bilal Demir, Evren Akpınar, Osman Lapçin, Yunus Atıcı, Yavuz Kabukçuoğlu   +6 more
doaj   +2 more sources

Hypophosphatasia [PDF]

Orphanet Journal of Rare Diseases, 2007
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000.
Mornet Etienne
doaj   +5 more sources

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

Anales de Pediatría (English Edition), 2018
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and tooth mineralization, although extra-skeletal ...
Gabriel Ángel Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente   +3 more
doaj   +2 more sources

The Clinical Spectrum of Hypophosphatasia in Older Adults. [PDF]

Clin Case Rep
ABSTRACT Alkaline phosphatase (ALP) should be measured in older adults presenting with fragility fractures. Hypophosphatasia (HPP) should be suspected in individuals with hypophosphatasemia (low serum ALP). A correct diagnosis allows clinicians to avoid using potent antiresorptive osteoporosis medications, which are contraindicated in patients with HPP.
Valdez Navarro E, Wong EM, Tile L, Cheung AM.   +3 more
europepmc   +2 more sources

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP. [PDF]

JIMD Rep
ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Devore D, Ruanova J, Voegtli W, Dunn D, Decker J, Mazzantini M, De Tata V, Scavuzzo MC, Conti F, Petryk A, Brandi ML.   +10 more
europepmc   +2 more sources

Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time [PDF]

SAGE Open Medical Case Reports
During routine medical examinations, we incidentally diagnosed 11 individuals with hypophosphatasia, which is a condition that has previously gone unrecognized. Six patients also had low levels of serum Zn.
Hisashi Kawashima, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama   +3 more
doaj   +2 more sources

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia [PDF]

Indian Journal of Endocrinology and Metabolism
Introduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic ...
Melkunte S. Dhananjaya, S. Thrupti, Hamsa V. Reddy, Anusha Nadig, Kenchappa S. Adarsh, Swati Jadhav, Parvathy Lalitha, Sandhya Nair, Shaila Bhattacharyya, Anurag Lila, Vijaya Sarathi   +10 more
doaj   +2 more sources

Influence of Vitamin D Level on Oral Health Status in Adult Hypophosphatasia. [PDF]

J Oral Pathol Med
ABSTRACT Aim Vitamin D deficiency is common in hypophosphatasia (HPP) patients. However, its impact on oral health is unclear. Therefore, the purpose of this study was to investigate the relationship between Vitamin D levels and oral health in adults with hypophosphatasia.
Dudde F, Fildebrandt D, Kock P, Petz K, Smeets R, Gosau M, Amling M, Beikler T, Barvencik F.   +8 more
europepmc   +2 more sources

Hypophosphatasia

Annals of Internal Medicine: Clinical Cases
Hypophosphatasia is a significantly heterogeneous disease caused by loss of function mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental and skeletal issues from birth to adulthood.
Asmaa S. AbuMaziad, Gabrielle C. Milillo
doaj   +3 more sources