Results 21 to 30 of about 2,799 (170)

Bone-Targeted Alkaline Phosphatase Treatment of Mandibular Bone and Teeth in Lethal Hypophosphatasia via an scAAV8 Vector

Molecular Therapy: Methods & Clinical Development, 2018
Hypophosphatasia is an inherited disease caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNALP), the major symptom of which is hypomineralization of the bones and teeth. We had recently demonstrated that TNALP-deficient (
Ryo Ikeue, Aki Nakamura-Takahashi, Yuko Nitahara-Kasahara, Atsushi Watanabe, Takashi Muramatsu, Toru Sato, Takashi Okada   +6 more
doaj   +1 more source

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   +1 more source

Emerging therapies for the treatment of rare pediatric bone disorders

Frontiers in Pediatrics, 2022
In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill, Evangelia Kalaitzoglou, John L. Fowlkes   +2 more
doaj   +1 more source

Hypophosphatasia in Taiwan: Report of Two Cases

Kaohsiung Journal of Medical Sciences, 2005
Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood.
Yen-Yin Chou, Shang-Chun Tsai, Shio-Jean Lin   +2 more
doaj   +1 more source

Infantile Hypophosphatasia: Clinical Case

Вопросы современной педиатрии, 2020
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive ...
Tatyana V. Gabrusskaya, Yana V. Panutina, Maria O. Revnova, Mikhail M. Kostik   +3 more
doaj   +1 more source

Prosthetic Rehabilitation of Hypophosphatasia with Precision Attachment Retained Unconventional Partial Denture: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Deficiency of the alkaline phosphatase isoenzyme can lead to a rare hereditary disorder called Hypophosphatasia. It is characterized by defective mineralization of the skeletal and dental structures of the body.
GAYATRI SHEENA SUVARNA, RAMESH KHANDURAO NADIGER, SATYABODH SHESHARAJ GUTTAL, OMKAR SHETTY   +3 more
doaj   +1 more source

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
Introduction: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation.
Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani   +3 more
doaj   +1 more source

[HYPOPHOSPHATASIA]. [PDF]

Radiologia diagnostica, 1996
Hypophosphatasia is a rare inherited metabolic disease characterised by reduced plasma and tissue alkaline phosphatase activity, and may present in infancy, childhood or adulthood. The differing modes of inheritance, presentation and natural history are likely to reflect variable expression of the alkaline phosphatase gene defect.
I, GROSSMANN, P, GROSSMANN
openaire   +4 more sources

Childhood hypophosphatasia: to treat or not to treat

Orphanet Journal of Rare Diseases, 2018
Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
doaj   +1 more source

Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis

Лечащий Врач, 2023
Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis.
E. Yu. Belyashova, A. L. Frolenko, I. V. Zorin, A. P. Pakhomov   +3 more
doaj   +1 more source