Results 171 to 180 of about 26,855 (306)
Advances in the genetics of refractive errors: Contributions from the CREAM consortium
Acta Ophthalmologica, EarlyView.Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li +11 more
wiley +1 more source
Glycine <i>N</i>-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism. [PDF]
JIMD RepNourbakhsh M +13 more
europepmc +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, EarlyView.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management. [PDF]
Orphanet J Rare DisHarings T +7 more
europepmc +1 more source
Alimentary Pharmacology &Therapeutics, EarlyView.A PBUB is a rare but often fatal complication of endoscopic variceal band ligation. The relevant risk factors contributing to PBUB are unknown and consequently there are no effective preemptive strategies. This study highlights kidney disease as a predictor of PBUB together with the well‐established higher risk for urgent band ligation.
Maria de Brito Nunes +5 more
wiley +1 more source
Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. [PDF]
Sudan J Paediatr, 2019 Reddy JM, Jose J, Prakash A, Devi S.
europepmc +1 more source
Excretion of organic acids associated with biotin deficiency in chronic anticonvulsant therapy [PDF]
, 1984 Berlit, Peter +3 more
core
British Journal of Developmental Psychology, EarlyView.Abstract Preterm birth is associated with later language impairment and delay. Socio‐economic deprivation is linked to decreased language exposure in early childhood, but it is unknown how prematurity influences this relationship. This study investigated the effects of socio‐economic status and gestational age at birth on language exposure, in a sample
Sinéad O'Carroll +5 more
wiley +1 more source