Results 51 to 60 of about 1,777 (209)

Mineral‐targeted alkaline phosphatase improves bone graft‐mediated alveolar bone defect healing in mice

Journal of Periodontology, EarlyView.
Abstract Background Alveolar bone loss challenges tooth retention and implant placement. Freeze‐dried bone allograft (FDBA) is widely used for alveolar ridge preservation but has limitations in resorption rate and healing time. In this proof‐of‐concept study, we tested whether pro‐mineralization enzyme, tissue‐nonspecific alkaline phosphatase (TNAP ...
Kedith Sawangsri, Aonjittra Phanrungsuwan, Binnaz Leblebicioglu, José Luis Millán, Brian L. Foster   +4 more
wiley   +1 more source

Clinical and genetic characteristics of hypophosphatasia in Chinese children

Orphanet Journal of Rare Diseases, 2021
Background Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes.
Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen, Chunxiu Gong   +8 more
doaj   +1 more source

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study [PDF]

, 2015
Objectives: The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary ...
Costa, F. W. G., Fonteles, C. S. R., Ribeiro, T. R., Soares, E. C. S., Williams, J. R., Jr.   +4 more
core   +1 more source

Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia [PDF]

Bioscience Reports, 2018
Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone and/or dental mineralization, and decreased serum alkaline phosphatase (ALP) activity. ALPL, the only gene related with HPP, encodes tissue non-specific ALP (TNSALP). Few studies were carried out in ALPL gene mutations in the Chinese population with HPP.
Xu, Lijun, Pang, Qianqian, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Xia, Weibo   +6 more
openaire   +2 more sources

Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev, Nagore Ambrosio, Cheryl Somani, Elena Figuero, Lior Shapira, Janet Davies   +5 more
wiley   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia [PDF]

, 2021
Purpose: The study aimed to define the clinical, biochemical and genetic features of adult patients with osteopenia/osteoporosis and/or bone fragility and low serum alkaline phosphatase (sALP).
C. Verdelli, F. Sileri, G. Dito, G. Guabello, M. Longhi, R. Indirli, S. Corbetta, V. Guarnieri   +7 more
core   +1 more source

Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2005
AbstractHypophosphatasia is an inherited disorder due to mutations in the bone alkaline phosphatase (ALPL) gene. We report here a patient with childhood hypophosphatasia diagnosed at 1.4 yr because of pectus excavatum, large anterior fontanel, rachitic skeletal changes, and low serum alkaline phosphatase.
A, Taillandier, S-L, Sallinen, I, Brun-Heath, P, De Mazancourt, J-L, Serre, E, Mornet   +5 more
openaire   +2 more sources