Results 11 to 20 of about 1,777 (209)

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   +3 more sources

Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]

Journal of the Endocrine Society, 2017
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.
Remde, Hanna, Cooper, Mark S., Quinkler, Marcus   +2 more
openaire   +6 more sources

Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia

The Journal of Pediatric Research, 2022
Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening perinatal and infantile forms of HPP. However, treatment of those patients without life-threatening HPP is
Gönül Çatlı, Berna Eroğlu Filibeli, Handan Çelik, Özlem El, Bumin Dündar   +4 more
openaire   +5 more sources

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia [PDF]

Orphanet Journal of Rare Diseases, 2006
Hypophosphatasia (HP) is an inborn error of bone metabolism characterized by a genetic defect in the gene encoding the tissue-nonspecific alkaline phosphatase (TNSALP). There is a lack of knowledge as to how the variability and clinical severity of the HP phenotype (especially pain and walking impairment) are related to metabolic disturbances or ...
Girschick, H. j., Schneider, P., Haubitz, I., Hiort, O., Collmann, H., Beer, M., Shin, Y. S., Seyberth, H. W.   +7 more
openaire   +5 more sources

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
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.
Mari Mori, Priya S Kishnani, Thomas J Weber   +2 more
exaly   +3 more sources

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials [PDF]

Molecular Genetics and Metabolism Reports, 2020
Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene.
Hitomi Nishizawa, Yoshihiko Sato, Masumi Ishikawa, Yuko Arakawa, Mari Iijima, Tomoyuki Akiyama, Kyoko Takano, Atsushi Watanabe, Tomoki Kosho   +8 more
doaj   +3 more sources

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Osteoporosis and Bone Diseases, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients. HPP is classified into six forms according to the age of onset and severity of its clinical picture.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
openaire   +4 more sources

Modern Approaches to the Management of Children with Hypophosphatasia

Педиатрическая фармакология, 2023
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova   +22 more
doaj   +1 more source

Prosthetic Rehabilitation of Hypophosphatasia with Precision Attachment Retained Unconventional Partial Denture: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Deficiency of the alkaline phosphatase isoenzyme can lead to a rare hereditary disorder called Hypophosphatasia. It is characterized by defective mineralization of the skeletal and dental structures of the body.
GAYATRI SHEENA SUVARNA, RAMESH KHANDURAO NADIGER, SATYABODH SHESHARAJ GUTTAL, OMKAR SHETTY   +3 more
doaj   +1 more source

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

JIMD Reports, 2021
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard   +2 more
doaj   +1 more source