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Hypophosphatasia [PDF]

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   +8 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, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Tea V. Margieva, Nato D. Vashakmadze, Elena A. Vishneva, Lilia R. Selimzyanova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Tina V. Lobzhanidze, Lyudmila K. Mikhaylova, Olga A. Polyakova, Svetlana V. Mikhaylova, Sergei V. Moiseev, Tatiana V. Podkletnova, Alla N. Semechkina, Olga V. Udalova, Alisa V. Vitebskaya, Larisa P. Kisel’nikova, Mikhail M. Kostik   +20 more
doaj   +3 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, Agnès Linglart, Anna Petryk, Priya S Kishnani, Lothar Seefried, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Kathryn Dahir, Gabriel Ángel Martos-Moreno   +9 more
doaj   +2 more sources

Bilateral healing of pseudofractures in hypophosphatasia with teriparatide: a case report [PDF]

Journal of Medical Case Reports
Background Hypophosphatasia is a rare, inherited metabolic bone disease characterized by impaired activity of tissue-nonspecific alkaline phosphatase leading to pathological mineralization of hard tissue, predisposing to poorly healing fractures. Limited
Elaf Al-Saoudi, Nicola Hepp, Jens-Erik Beck Jensen   +2 more
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Hypophosphatasia

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, Nathan Lorde, John Martin Ward, Ingrid Borovickova   +3 more
core   +7 more sources

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia [PDF]

Indian Journal of Endocrinology and Metabolism
Introduction: 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, S. Thrupti, Hamsa V. Reddy, Anusha Nadig, Kenchappa S. Adarsh, Swati Jadhav, Parvathy Lalitha, Sandhya Nair, Shaila Bhattacharyya, Anurag Lila, Vijaya Sarathi   +10 more
doaj   +2 more sources

Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time [PDF]

SAGE Open Medical Case Reports
During 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, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama   +3 more
doaj   +2 more sources

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort [PDF]

Frontiers in Genetics
IntroductionHypophosphatasia (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, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed   +12 more
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Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants [PDF]

Frontiers in Pediatrics
This 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
doaj   +2 more sources

Hypophosphatasia

Annals of Internal Medicine: Clinical Cases
Hypophosphatasia 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
doaj   +2 more sources