Results 41 to 50 of about 9,342 (275)
A Rare Case of Neonatal Hypophosphatasia: A Case Report [PDF]
Iranian Journal of Neonatology, 2018 Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal
Nasim Pouralizadeh +2 more
doaj +1 more source
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]
, 2017 Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization.
Cooper, Mark S. +2 more
core +1 more source
Development of Bone Targeting Drugs. [PDF]
, 2017 The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage
Alméciga-Díaz, Carlos J. +6 more
core +2 more sources
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 +6 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 +3 more
doaj +1 more source
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases [PDF]
, 2016 published_or_final_versio
Qiao, W +4 more
core +1 more source
Hypophosphatasia: from birth to adulthood
Archives of Endocrinology and Metabolism, 2023 Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules.
Fernanda Salles Reis +1 more
semanticscholar +1 more source
Journal of Clinical Pathology, 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 J, Ramage, A J, Howatson, T J, Beattie
openaire +2 more sources
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 +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 +3 more
doaj +1 more source