Results 71 to 80 of about 1,523 (155)
Trauma Case ReportsHypophosphatasia 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 +2 more
doaj +1 more source
Journal of Periodontology, Volume 97, Issue 5, Page 1071-1085, May 2026.Abstract Background Alveolar bone loss challenges tooth retention and implant placement. Freeze‐dried bone allograft (FDBA) is widely used for alveolar ridge preservation but has limitations in resorption rate and healing time. In this proof‐of‐concept study, we tested whether pro‐mineralization enzyme, tissue‐nonspecific alkaline phosphatase (TNAP ...
Kedith Sawangsri +4 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Pathways to enhancing prenatal diagnosis of skeletal dysplasias
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang +4 more
wiley +1 more source
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa [PDF]
, 2016 Hideo Orimo Division of Metabolism and Nutrition, Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan Abstract: Hypophosphatasia (HPP) is an inherited systemic bone disease that is characterized by bone ...
Orimo H
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Pregnancy, Volume 2, Issue 3, May 2026.Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia +5 more
wiley +1 more source
Hypophosphatasia : Case report
, 1998 Hypophosphatasia is a rare metabolic disorder which manifests characteristics such as abnormal mineralization of bone and dental tissues, diminished serum and tissue alkaline phosphatase, and increased urinary secretion of PEA.
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Hypophosphatasia and its role in bone pathology in adults
, 2021 Pathogenesis and symptoms of hypophosphatasia were reviewed, in particular in adults, as well as methods of diagnostics and ...
O. M. Lesnyak, K. E. Zotkina
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