Results 11 to 20 of about 10,706 (212)

Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review [PDF]

BMC Pediatrics, 2019
Objective Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP).
Xiaojian Mao, Sichi Liu, Yunting Lin, Zhen Chen, Yongxian Shao, Qiaoli Yu, Haiying Liu, Zhikun Lu, Huiyin Sheng, Xinshuo Lu, Yonglan Huang, Li Liu, Chunhua Zeng   +12 more
doaj   +5 more sources

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested.
Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang   +4 more
doaj   +3 more sources

Six ALPL gene variants in five children with hypophosphatasia. [PDF]

Ann Transl Med, 2021
Hypophosphatasia (HPP) is a rare hereditary disorder characterized by defective bone and tooth mineralization caused by mutations in the alkaline phosphatase (ALPL) gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Here we performed clinical and molecular studies on 5 HPP children to investigate the pathogenic mechanisms of the ALPL gene ...
Su N, Zhu M, Cheng X, Xu K, Kocijan R, Zhang H.   +5 more
europepmc   +4 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
doaj   +2 more sources

The ALPL gene variant project: results of the first 100 reclassified variants. [PDF]

JBMR Plus
Abstract Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization, among other body systems. HPP is caused by pathogenic variants in the alkaline phosphatase-liver (ALPL) gene, which encodes tissue nonspecific alkaline phosphatase.
Farman MR, Malli T, Rehder C, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Barbazza F, Shojaei S, Ebner-Jahn J, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Tauer JT, Kishnani PS, Högler W.   +21 more
europepmc   +4 more sources

Neonatal hypophosphatasia: a case report of a rare genetic disorder [PDF]

BMC Pediatrics
Background Neonatal Hypophosphatasia is a rare condition attributed to loss of function mutations in the ALPL gene, resulting in diminished activity of Tissue Non-Specific Alkaline Phosphatase (TNSALP).
Wasif Ilyas Vohra, Nimra Chohan, Adnan Mirza   +2 more
doaj   +2 more sources

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report [PDF]

J Endocr Soc, 2023
Abstract Disclosure: K. Alkwatli: None. L.Z. Khan: None. Introduction: Hypophosphatasia is a rare hereditary disorder caused by loss of tissue nonspecific alkaline phosphatase activity, an essential enzyme in phosphate metabolism. Severe cases present perinatally and in early childhood.
Alkwatli, Kenda, Khan, Leila Zeinab
europepmc   +2 more sources

A novel missense mutation in the ALPL gene causes dysfunction of the protein. [PDF]

Mol Med Rep, 2017
Hypophosphatasia (HP) is a rare genetic disease caused by mutation in the alkaline phosphatase, liver/bone/kidney (ALPL) gene with highly variable clinical manifestations. Efforts have been made to collect cases with novel mutations and to examine how a missense mutation affects ALPL protein function, which remains difficult to predict.
Chen B, Li L, Ren W, Yi L, Wang Y, Yan F.   +5 more
europepmc   +4 more sources

A compound heterozygous mutation of the alkaline phosphatase ALPL gene causes hypophosphatasia in a Han Chinese family. [PDF]

Exp Ther Med, 2020
Hypophosphatasia (HPP) is a rare hereditary systemic disease that is characterized by defective bone and/or dental mineralization, and is caused by mutations in the alkaline phosphatase gene (ALPL). The present study investigated the ALPL mutation in a Chinese Han family with HPP and studied the pathogenesis of the mutations of the ALPL gene.
Huang H, Wang J, Liang Y, Wei X, Guo D, Sun H, Zhang X, Xu X, Xiong F.   +8 more
europepmc   +4 more sources

Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. [PDF]

Human mutation, 2003
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterization of ALPL gene mutations in a series of 11 families from various origins affected by perinatal and infantile hypophosphatasia.
Spentchian, M, Merrien, Y, Herasse, M, Dobbie, Z, Glaser, D, Holder, SE, Ivarsson, SA, Kostiner, D, Mansour, S, Norman, A, Roth, J, Stipoljev, Feodora, Taillemite, JL, van der Smagt, JJ, Serre, JL, Simon-Bouy, B, Taillandier, A, Mornet, E.   +17 more
openaire   +3 more sources