Results 161 to 170 of about 37,810 (312)

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China. [PDF]

Front Genet
Zhang H, Tian H, Dai W, Zhang L, Guo G, Ding G.   +5 more
europepmc   +1 more source

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options. [PDF]

Cells, 2023
Bremova-Ertl T, Hofmann J, Stucki J, Vossenkaul A, Gautschi M.   +4 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Preverbal visual assessment for screening cerebral visual impairment: Diagnostic accuracy and clinical utility

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Karen L. Harpster, Terry L. Schwartz, Alaina Johnson, Reena Donofe, Li Lin, Melissa L. Rice   +5 more
wiley   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

A pragmatic approach to the diagnosis of inborn errors of metabolism in developing countries. [PDF]

Afr J Lab Med, 2023
Anetor JI, Orimadegun BE, Anetor GO.
europepmc   +1 more source

General movements and neurodevelopmental outcomes at 2 years of age in infants born very preterm

Developmental Medicine &Child Neurology, EarlyView.
This study examines the predictive role of early motor quality in very preterm born infants using the Motor Optimality Score ‐ Revised (MOS‐R). The graphical abstract depicts the link between newborn general movements and cognitive as well as motor outcomes at two years.
Ninib Yakoub, Marieken Asprion, Stephanie Brezina, Tilman Reinelt, Giancarlo Natalucci   +4 more
wiley   +1 more source

mRNA therapy as primary and bridge therapy for inborn errors of metabolism. [PDF]

Mol Ther
Vockley J.
europepmc   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source