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Orphanet Journal of Rare Diseases, 2007 Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000.
Mornet Etienne
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Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time [PDF]
SAGE Open Medical Case ReportsDuring routine medical examinations, we incidentally diagnosed 11 individuals with hypophosphatasia, which is a condition that has previously gone unrecognized. Six patients also had low levels of serum Zn.
Hisashi Kawashima +3 more
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Growth and disease burden in children with hypophosphatasia
Endocrine Connections, 2023 Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical ...
Wolfgang Högler +9 more
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Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia [PDF]
Indian Journal of Endocrinology and MetabolismIntroduction: Hypophosphatasia (HPP) is a rare disorder, with only two genetically proven cases reported from India. Here, We report five Indian patients with genetically proven hypophosphatasia and describe their clinical, biochemical, and genetic ...
Melkunte S. Dhananjaya +10 more
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Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort [PDF]
Frontiers in GeneticsIntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir +12 more
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Annals of Internal Medicine: Clinical CasesHypophosphatasia is a significantly heterogeneous disease caused by loss of function mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental and skeletal issues from birth to adulthood.
Asmaa S. AbuMaziad, Gabrielle C. Milillo
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Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants [PDF]
Frontiers in PediatricsThis study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder.
Qiongjie Jiao, Guixia Ma, Qian Ni
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Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications [PDF]
Frontiers in Oral HealthHypophosphatasia (HPP) is a rare metabolic bone disorder caused by functional mutations in the gene Alkaline Phosphatase, Liver/Bone/Kidney (ALPL), resulting in impaired mineralization of bones and teeth.
Yating Cao +5 more
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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
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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
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