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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
doaj +9 more sources
Growth and disease burden in children with hypophosphatasia [PDF]
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
doaj +3 more sources
Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia. [PDF]
Indian J Endocrinol MetabIntroduction: 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 ...
Dhananjaya MS +10 more
europepmc +2 more sources
Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report. [PDF]
J Med Case RepBackground Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Tokuchi S +11 more
europepmc +2 more sources
Transformative therapy in hypophosphatasia [PDF]
Archives of Disease in Childhood, 2016 Hypophosphatasia (HPP) is a rare, potentially life-threatening disease characterised by hypomineralisation of bones and teeth.1 The fundamental defect is reduced functional activity of the enzyme tissue-nonspecific alkaline phosphatase (usually just termed alkaline phosphatase [ALP] in clinical practice).
Craig F Munns +8 more
core +5 more sources
Prosthetic rehabilitation of hypophosphatasia: a case report [PDF]
, 2008 Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline phosphatase gene.
Aydoğan, Elif +3 more
core +4 more sources
HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW
Остеопороз и остеопатии, 2015 Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova +4 more
doaj +3 more sources
Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia? [PDF]
Frontiers in Dental Medicine, 2022 Mineralization of the skeleton occurs by several physicochemical and biochemical processes and mechanisms that facilitate the deposition of hydroxyapatite (HA) in specific areas of the extracellular matrix (ECM). Two key phosphatases, phosphatase, orphan
Fatma F. Mohamed +6 more
doaj +3 more sources
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach [PDF]
Polish Journal of Pathology, 2016 Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment.
Ewelina M. Olech +6 more
doaj +4 more sources