Results 31 to 40 of about 3,700 (196)

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

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

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 the Newborn [PDF]

Archives of Disease in Childhood, 1963
Archives of Disease in ...
Lapatsanis, P. D., Todd, R. M.
openaire   +3 more sources

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

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

Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia

, 2014
Hypophosphatasia is a rare inherited disorder characterized by poor bone mineralization and deficiency of alkaline phosphatase activity. It is caused by mutations in the liver/bone/kidney alkaline phosphatase gene encoding the tissue-nonspecific ...
Chang, Kai-Chi;Lin, Po-Han;Su, Yi-Ning;Peng, Steven Shinn-Forng;Lee, Ni-Chung;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien, 周弘傑 ;彭信逢 ;曹伯年 ;謝武勳 ;李妮鍾 ;蘇怡寧 ;林柏翰 ;陳倩儀   +1 more
core   +1 more source

Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]

Neonatal Medicine, 2020
Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day.
Seung Jae Lee, Dong Won Lee, Won Duck Kim   +2 more
doaj   +1 more source