Results 51 to 60 of about 1,523 (155)

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene

, 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.
Spentchian, M, Gläser, D, Norman, A, Herasse, M, Ivarsson, Sten, Mansour, S, Taillemite, JL, Serre, JL, Mornet, E, Holder, S, Merrien, Y, Stipolev, F, Van Der Smagt, JJ, Dobbie, Z, Kostiner, D, Simon-Bouy, B, Taillandier, A, Roth, J, Ivarsson, Sten,, Lund University.   +19 more
core   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia

Frontiers in Genetics, 2021
Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization.
Qiang Zhang, Qiang Zhang, Zailong Qin, Zailong Qin, Shang Yi, Hao Wei, Xun zhao Zhou, Fei Shen   +7 more
doaj   +1 more source

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

Anales de Pediatría (English Edition), 2018
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and tooth mineralization, although extra-skeletal ...
Gabriel Ángel Martos-Moreno, Joan Calzada, María L. Couce, Jesús Argente   +3 more
doaj   +1 more source

Low Serum Alkaline Phosphatase Levels in Paediatric sepsis Correlate With Acute Kidney Injury: A Multicenter Retrospective Study

Acta Paediatrica, Volume 115, Issue 10, Page 2315-2322, October 2026.
ABSTRACT Aims To investigate the association between serum ALP levels and the development of AKI in paediatric patients with sepsis. Methods Retrospective screening of a computerized database of 4 Israeli regional hospitals for children (0–18 years) hospitalized between 1.01.2000–1.06.2024 with ICD‐9 sepsis‐related diagnoses (study group) and age‐ and ...
Evgenia Gurevich, Ido Levi, Yehonatan Marziano, Michael Kalinin, Natalya Bilenko, Daniel Landau   +5 more
wiley   +1 more source

The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces

Diagnostics, 2022
Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene.
Izabela Michałus, Aneta Gawlik, Katarzyna Wieczorek-Szukała, Andrzej Lewiński   +3 more
doaj   +1 more source

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson‐Gilford Progeria Syndrome

Aging Cell, Volume 25, Issue 9, September 2026.
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Wayne A. Cabral, Caleb M. Grenko, Diana Yeritsyan, Indeevar Beeram, Shubham Laiwala, Lukas R. Johnson, Urraca L. Tavarez, Tingfen Yan, Stephen M. Wincovitch, Luke W. Koblan, Xin D. Gao, Meirui An, Narisu Narisu, Leslie G. Biesecker, David R. Liu, Ara Nazarian, Francis S. Collins, Michael R. Erdos   +17 more
wiley   +1 more source

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

, 2023
Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase.
Steve Sims, Tony Yuen, Funda Korkmaz, Mone Zaidi, Se-Min Kim, Vitaly Ryu   +5 more
core   +1 more source

Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time

SAGE Open Medical Case Reports
During routine medical examinations, we incidentally diagnosed 11 individuals with hypophosphatasia, which is a condition that has previously gone unrecognized. Six patients also had low levels of serum Zn.
Hisashi Kawashima, Atsuko Sasame, Yoko Ogaki, Takayuki Nakayama   +3 more
doaj   +1 more source

Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report

Contemporary Clinical Dentistry, 2012
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.
Partapjot S Grewal, Kanu Priya Gupta
doaj   +1 more source