Results 61 to 70 of about 3,804 (207)
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
, 2012 Background Enamel is an external layer of the crown, and its production can be affected by genetic, systemic or environmental causes Amelogenesis Imperfecta (AI) is an inherited defect of dental enamel, and can be autosomal dominant, recessive, x-linked ...
Abdullatif, MAA
core
Exonal Deletion of SLC24A4 Causes Hypomaturation Amelogenesis Imperfecta
, 2014 Amelogenesis imperfecta is a heterogeneous group of genetic conditions affecting enamel formation. Recently, mutations in solute carrier family 24 member 4 (SLC24A4) have been identified to cause autosomal recessive hypomaturation amelogenesis imperfecta.
Yıldırım, Mustafa Semih +6 more
core +1 more source
International Journal of Paediatric Dentistry, Volume 36, Issue 1, Page 13-18, January 2026.ABSTRACT Background Children receiving dental treatment under general anesthesia (GA) often have odontogenic infections (OIs). Early detection and treatment of patients at risk of OIs can improve oral health and prevent early tooth extractions. Aim To investigate the prevalence, characteristics, and predictive factors of OIs in children receiving ...
Annmari Hyppänen +4 more
wiley +1 more source
, 2003 P(論文)Amelogenesis imperfecta causes defects in the tooth enamel. These defects can appear as small pits or dents in the tooth or can be so widespread as to make the entire tooth small in size and/or mis-shaped.
SAITO,Takashi/IBARAKI,Yuji/IZUMIKAWA,Masanobu/KAWAKAMI,Tomofumi/MATSUDA,Koichi +2 more
core
Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report
Head & Face Medicine, 2020 Background Amelogenesis imperfecta is a hereditary malformation showing various manifestations regarding enamel dysplasia. This case report shows a 9-year follow-up after restorative treatment of a 16-year old female patient affected by a hypoplastic ...
Martin M. I. Sabandal +2 more
doaj +1 more source
International Journal of Paediatric Dentistry, Volume 36, Issue 1, Page 140-152, January 2026.ABSTRACT Background Regional odontodysplasia (RO) is a rare developmental dental anomaly with unknown prevalence. Current knowledge is largely limited to individual case reports. Aim This study aims to present epidemiological data, clinical features, and radiographic characteristics of pediatric and adolescent patients with RO in South Korea. Design In
So Dam Lee +5 more
wiley +1 more source
BioMed Research International, Volume 2026, Issue 1, 2026.Aim The aim of this study is to examine the prevalence of molar incisor hypomineralization (MIH), as well as the relationship between stimulated salivary flow rate, salivary pH, viscosity, and salivary buffer capacity with the presence of MIH in 6‐ to 12‐year‐old Mexican children.
Alvaro García Pérez +5 more
wiley +1 more source
Revista de la Asociación Odontológica Argentina, 2012 sumen Objetivo. Describir el manejo clínico para la restauración estética y funcional de un caso con amelogénesis imperfecta. Caso clínico. Paciente femenina de 15 años que presentaba alteración en la apariencia estética de sus dientes y episodios ...
Weider de Oliveira +5 more
doaj