Results 121 to 130 of about 9,342 (275)

Neurological and Neurosurgical Aspects of Hypophosphatasia

Педиатрическая фармакология, 2018
Hypophosphatasia is a rare hereditary progressive disease caused by a mutation in ALPL gene and characterized by low activity of alkaline phosphatase.
Vadim P. Ivanov, Leonid A. Satanin, Alexander V. Kim, Ludmila M. Kuzenkova, Tea V. Margieva, Sofia G. Popovich   +5 more
doaj   +1 more source

Common and rare variants associated with kidney stones and biochemical traits. [PDF]

, 2015
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.Kidney stone disease is a complex disorder with a
Edvardsson, Vidar O, Eyjolfsson, Gudmundur I, Gudbjartsson, Daniel F, Haraldsdottir, Eik, Helgason, Hannes, Holm, Hilma, Indridason, Olafur S, Masson, Gisli, Oddsson, Asmundur, Olafsson, Isleifur, Palsson, Runolfur, Sigurdardottir, Olof, Stefansson, Kari, Sulem, Patrick, Sveinbjörnsson, Gardar, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur   +16 more
core   +1 more source

Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell‐Free DNA? A Systematic Literature Review

Prenatal Diagnosis, Volume 45, Issue 9, Page 1139-1150, August 2025.
ABSTRACT Objective Monogenic disorders (MDs), often associated with developmental delay, intellectual disability, hypotonia, or dysmorphic facial features, typically go undetected during pregnancy. These disorders are frequently caused by de novo single nucleotide variants (SNVs), which are not currently covered by routine non‐invasive prenatal testing
Kristína Valovičová, Karin E. M. Diderich, Wichor M. Bramer, Sander Lamballais, Malgorzata Ilona Srebniak   +4 more
wiley   +1 more source

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

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

Outlook Magazine, Fall 2002 [PDF]

, 2002
https://digitalcommons.wustl.edu/outlook/1147/thumbnail ...

core   +1 more source

Genetics and Vitamin D Interactions in Osteoporosis: A Path to Precision Medicine

Journal of Cellular and Molecular Medicine, Volume 29, Issue 16, August 2025.
ABSTRACT Osteoporosis is a systemic skeletal disease characterized by reduced bone mineral density (BMD) and increased fracture risk; it poses a significant global health challenge. The multifactorial pathogenesis of osteoporosis involves complex interactions between genetic factors and vitamin D metabolism, particularly involving key genes such as the
Sepideh Abdollahi, Forough Taheri, Amirhossein Sangi Nasab Lahijan, Saba Hatefi Shoga, Ali Didehban, Saeid Doaei   +5 more
wiley   +1 more source

Flexible Screen‐Printed Electrochemical Sensor for Alkaline Phosphatase Detection in Biofluids for Biomedical Applications

ChemistryOpen, Volume 14, Issue 6, June 2025.
A sustainable, flexible electrochemical sensor enables simple alkaline phosphatase detection in serum. Fabricated via screen‐printing, it offers a low‐cost, disposable, and eco‐friendly diagnostic solution. With a detection limit of 0.08 U/L and a repeatability below 10%, it supports real‐time, decentralized healthcare. These results validate the “less‐
Panagiota M. Kalligosfyri, Antonella Miglione, Alessia Esposito, Raghad Alhardan, Gabriella Iula, Iclal Atay, Ibrahim A. Darwish, Sevinc Kurbanoglu, Stefano Cinti   +8 more
wiley   +1 more source

The presence of PHOSPHO1 in matrix vesicles and its developmental expression prior to skeletal mineralization [PDF]

, 2006
PHOSPHO1 is a phosphoethanolamine/phosphocholine phosphatase that has previously been implicated in generating inorganic phosphate (Pi) for matrix mineralization.
Davey, Megan G, Farquharson, Colin, Fleming, Robert H, Roberts, Scott J, Seawright, Elaine, Stewart, Alan J   +5 more
core   +1 more source

High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant

JMA Journal
Introduction: Hypophosphatasia has been reported to develop nephrocalcinosis, renal stone, and chronic kidney failure. We investigated their renal impairments in the adults with hypophosphatasia to know the phenotype-genotype correlation Methods: We ...
Hisashi Kawashima, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama   +3 more
semanticscholar   +1 more source

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

Polish Journal of Pathology, 2016
Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment.
Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer   +6 more
doaj   +1 more source