Results 21 to 30 of about 9,342 (275)
Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants [PDF]
Molecular Biology ReportsHypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective was to explore novel ALPL variants by whole genome sequencing (WGS) in patients with ...
Lothar Seefried +4 more
openalex +2 more sources
Journal of Clinical Medicine, 2021 Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of TNAP leads to the accumulation of its substrates, mainly inorganic pyrophosphate and pyridoxal-5′-phosphate, metabolic aberrations that largely explain the musculoskeletal and ...
Symeon Tournis +3 more
openaire +6 more sources
Current Approaches in Management of Patients with Hypophosphatasia
Педиатрическая фармакология, 2021 he authors present the latest data on the hypophosphatasia (HPP) management in children. Hypophosphatasia is a rare genetic disease caused by deficiency of tissue-specific alkaline phosphatase due to mutation in the ALPL gene.
Alexander A. Baranov +20 more
doaj +1 more source
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
Pathophysiology of Femoral Fractures in Hypophosphatasia. [PDF]
Curr Osteoporos RepIn this review, we will examine the pathophysiology, anatomy, biochemistry, and genotype-phenotype correlation of femoral fractures in adult hypophosphatasia.
Tabegna FGA +7 more
europepmc +2 more sources
Hypophosphatasia: A case report. [PDF]
World J Clin CasesBACKGROUND Hypophosphatasia (HPP) is a rare metabolic disorder caused by low tissue-nonspecific alkaline phosphatase (ALP) activity, presenting symptoms from bone demineralization to tooth loss.
Gill AS, Sharma P, Nassar M, Marte E.
europepmc +2 more sources
Impact of Restricted Phosphorus, Calcium-adjusted Diet on Musculoskeletal and Mental Health in Hypophosphatasia [PDF]
Journal of the Endocrine Society, 2023 Context Impairments in musculoskeletal and mental health are common in adults with Hypophosphatasia (HPP). Restricted phosphorus intake has been suggested to positively affect symptoms in HPP, but there is a lack of interventional evidence.
Katinka Kuehn +2 more
openalex +2 more sources
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
Osteoporosis International, 2023 This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic ...
Aliya A. Khan +31 more
semanticscholar +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