Results 61 to 70 of about 6,701 (243)

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

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]

, 2016
Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe, Cole, Lindahl, Lu, McInerney-Leo, Pace, Sillence, Symoens, Takagi, Takagi, Van Dijk   +10 more
core   +1 more source

The oral microbiota and periodontal health in orthodontic patients

Periodontology 2000, EarlyView.
Abstract The oral microbiota develops within the first 2 years of childhood and becomes distinct from the parents by 4 years‐of‐age. The oral microbiota plays an important role in the overall health/symbiosis of the individual. Deviations from the state of symbiosis leads to dysbiosis and an increased risk of pathogenicity.
Brandon W. Peterson, Geerten‐Has Tjakkes, Anne‐Marie Renkema, David J. Manton, Yijin Ren   +4 more
wiley   +1 more source

Emerging therapies for the treatment of rare pediatric bone disorders

Frontiers in Pediatrics, 2022
In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill, Evangelia Kalaitzoglou, John L. Fowlkes   +2 more
doaj   +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

Ectopic expression of alkaline phosphatase in proximal tubular brush border membrane of human renal cell carcinoma [PDF]

, 2005
The present study was conducted to find out any alteration in the expression and activity of alkaline phosphatase in the brush border membrane (BBM) from renal cell carcinoma (RCC) in comparison to normal renal BBM.
Attri, S., Kaler, P., Kumar, S., Lambe, S., Pathania, S., Prasad, R., Singh, S.K.   +6 more
core   +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 global ALPL gene variant classification project: dedicated to deciphering variants [PDF]

, 2023
Artículo escrito por un elevado número de autores, sólo se referencian el que aparece en primer lugar y los autores pertenecientes a la UAMHypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and
Farman, Mariam R., Martos Moreno, Gabriel Ángel   +1 more
core   +1 more source

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to
Mackenna E. Schouw, Claudia A. L. Ruivenkamp, Tamara T. Koopmann, Gijs W. E. Santen, Peter G. J. Nikkels, Karin van der Tuin   +5 more
wiley   +1 more source