Results 11 to 20 of about 2,799 (170)
Journal of Clinical Pathology, 2021 Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It is caused by a mutation in the ALPL gene encoding the tissue-non-specific isoenzyme of ALP (TNSALP) resulting in a loss of function.
Jonathan Samuel Fenn +3 more
openaire +6 more sources
First Reported Case of a Pyrophosphate Kidney Stone in a Human
Case Reports in Nephrology and Dialysis, 2023 Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans.
Michael R. Gigax +5 more
doaj +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Case Reports in Pediatrics, 2020 Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia.
Kasra Zarei +4 more
doaj +1 more source
Bone Reports, 2022 Asfotase alfa is a human recombinant enzyme replacement therapy for hypophosphatasia. We describe 6 adults who were treated with asfotase alfa for 61–68 months in a clinical trial (NCT01163149), after which asfotase alfa was discontinued for 15–48 months.
Cheryl Rockman-Greenberg +3 more
doaj +1 more source
Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP.
Donghyun Lee +3 more
doaj +1 more source
Journal of Medical Case Reports, 2019 Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto ...
Kazunori Fukushima +8 more
doaj +1 more source
Dental loss, stress fractures, and musculoskeletal pain in a 48‐year‐old woman
Clinical Case Reports, 2023 We report a 48‐year‐old female patient with various stress fractures of extremities, musculoskeletal pain, and tooth loss. Hypophosphatasia was diagnosed based on clinical and laboratory findings and ALPL genetic results.
Lindsay T. Hoang +4 more
doaj +1 more source
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
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