نتایج جستجو برای: Hypophosphatasia

تعداد نتایج: 591  

2016
Mari Mori Stephanie L. DeArmey Thomas J. Weber Priya S. Kishnani

INTRODUCTION Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presentin...

Journal: :Annals of the rheumatic diseases 1981
A W Eade A J Swannell N Williamson

The association of hypophosphatasia and pyrophosphate arthropathy in an adult patient has been described on 1 previous occasion. We report a further 2 patients with this disease combination. One patient suffers from the type of hypophosphatasia that presents in adult life, with fractures that are either spontaneous or the result of minimal trauma. The other patient suffered from the severe type...

2016
Banu Güzel Nur Gamze Çelmeli Esra Manguoğlu Erdoğan Soyucen İffet Bircan Ercan Mıhçı

Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is ofte...

Journal: :Clinical science 1998
S J Iqbal A Brain T M Reynolds M Penny S Holland

1. Hypophosphatasia is a disorder characterized by low serum levels of alkaline phosphatase (ALP) and a range of skeletal deformities. The levels of a number of phosphorylated metabolites, namely phosphoethanolamine and pyrophosphate, are characteristically raised. Levels of pyridoxal-5'-phosphate (PLP) have also been reported to be raised. 2. Hypophosphatasia is a rare disease and experience o...

2017
Hanna Remde Mark S. Cooper Marcus Quinkler

Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization. Asfotase alfa (AA) is a recombinant human alkaline phosphatase therapy approved for treatment of pediatric-onset hypophosphatasia. Studies show promising outcome in AA-treated children with hypophosphatasia; how...

Journal: :Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2007
Atsushi Watanabe Seiichi Yamamasu Toshiya Shinagawa Yumi Suzuki Hidehiko Miyake Toshiyuki Takeshita Hideo Orimo Takashi Shimada

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypop...

2013
Umut Yavuz Sami Sökücü Bilal Demir Evren Akpınar Osman Lapçin Yunus Atıcı Yavuz Kabukçuoğlu

We report a 45-year-old male archer with stress fracture in his left ulna on the background of adult type of hypophosphatasia. The patient presented to several medical centers for pain around the left elbow and received medical treatment upon diagnosis of tenosynovitis. History of the patient revealed that he had had diagnosis of hypophosphatasia ten years ago and underwent percutaneous screwin...

Journal: :Journal of clinical pathology 1962
N H KORNER

A patient with hypophosphatasia and her relatives, including an affected brother, were studied with regard to serum alkaline phosphatase levels, phosphoethanolamine excretion, leucocyte alkaline phosphatase, blood group genes, and alkaline phosphatase distribution in the serum protein fractions. The pattern of alkaline phosphatase distribution in the serum protein fractions was normal both in t...

2008
Bora Bağiş Esra Baltacioğlu Elif Aydoğan Evşen Tamam

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. Six clinical forms of hypophosphatasia are recognized. Systemic symptoms of the disease are respiratory complications, premature craniosynostosis, widespread demineralization a...

Journal: :Annals of the Rheumatic Diseases 2021

Background: The most frequent manifestation in adult Hypophosphatasia (HPP) is musculoskeletal pain. 1,2 unspecific nature of its clinical presentation may prevent correct diagnosis. 3 Objectives: Identifying hypophosphatasia the rheumatology unit. Methods: Over a period 10 years 9,522 patients were screened rheumatological outpatient Serum ALP levels ≤ 40 U/l found 524 patients. After screenin...

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