Results 71 to 80 of about 9,342 (275)
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 +4 more
wiley +1 more source
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
Genes, 2023 Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging.
Xia Li +9 more
semanticscholar +1 more source
A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
Archives of Endocrinology and MetabolismSUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular
Francisco Galeano-Valle +2 more
doaj +1 more source
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]
, 2016 Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike +19 more
core +1 more source
Clinical Genetics, EarlyView.Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald +10 more
wiley +1 more source
The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
Journal of Endocrinological Investigation, 2023 Hypophosphatasia (HPP) is a rare genetic disorder in which pathogenic variants of the ALPL gene lead to a marked decrease of tissue non-specific alkaline phosphatase (TNSALP) activity.
G. I. Baroncelli +7 more
semanticscholar +1 more source
HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW
Остеопороз и остеопатии, 2015 Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova +4 more
doaj +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 +7 more
doaj +1 more source
Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]
, 2018 Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E. +5 more
core +2 more sources
European Journal of Dental Education, EarlyView.ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source