Results 111 to 120 of about 10,054 (208)

Alterations of Alpl and bFGF levels in peripheral tissues after mild traumatic brain injury: implications on sexual differences

Mild traumatic brain injury (mTBI) is a significant health issue affecting people of all ages and socioeconomic groups. Its clinical spectrum alters from transient mild symptoms to disabling problems.
Gülsu, Su Mercan, Taheri, Serpil, Yılmaz Şükranlı, Zeynep, Yora, Samed, Memiş, Mehmet, Mehmetbeyoğlu Duman, Ecmel, Kökenek Ünal, Tuba Dilay   +6 more
core   +1 more source

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

, 2010
Mineralization of the extracellular matrix of bone is an essential element of bone development, maintenance and repair. ALPL and ENPP1 genes and their products are known to be central in local regulation of bone mineralization.
Cohen, Z., Altmüller, J., Livshits, G., Ermakov, S., Nürnberg, P., Toliat, M.R., Malkin, I., Ida Malkin, Peter Nürnberg, Mohammad Reza Toliat, Zvi Cohen, Janine Altmüller, Sergey Ermakov, Gregory Livshits   +13 more
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Current View on Etiopathogenesis, Clinic, and Diagnosis of Hypophosphatasia in Children: Narrative Review and Case Study Description Represented by Stress Fractures

Вопросы современной педиатрии
Hypophosphatasia (HPP) is a monogenic bone disease caused by alkaline phosphatase (ALP) deficiency due to variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNALP).
Mirzonuriddin M. Alimov, Alexandr A. Konstantinov, Nataly O. Grankina, Alexandr V. Trofimov, Oksana L. Kolobova, Mikhail M. Kostik   +5 more
doaj   +1 more source

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia

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   +1 more source

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

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   +1 more source

Oglaševanje pohištvenega podjetja Alples d.d.

, 2015
Predstavili smo pohištveno podjetje Alples in njegovo delovanje na področju trženja, s poudarkom na oglaševanju. Podjetje je bilo v preteklosti, glede na sredstva, vložena v oglaševalske in druge trženjske aktivnosti, eno izmed vodilnih v slovenski lesni panogi.
openaire   +1 more source

Clinical and molecular characterization of an Egyptian cohort with autosomal recessive hypophosphatasia

Scientific Reports
Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by pathogenic variants in the ALPL. Reduced alkaline phosphatase (ALP) activity impairs hydroxyapatite formation and thereby reduces skeletal mineralization.
Dina El Dessouki, Rasha M. Elhossini, Nehal F. Hassib, Sherif F. Abdel-Ghafar, Maha R. Abouzaid, Adel M. Ashour, Ghada A. Otaify, Mohamed S. Abdel-Hamid, Mona S. Aglan   +8 more
doaj   +1 more source

ALPL Gene [PDF]

, 2020
openaire   +1 more source

ALPL wt Allele [PDF]

, 2020
openaire   +1 more source