Results 121 to 130 of about 20,351 (260)

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

Parent-Reported Caregiving Roles of Siblings of Children with Inborn Errors of Metabolism. [PDF]

J Dev Behav Pediatr, 2023
Granovetter MA, Sumrall S, Lea D, Gelles S, Koehly LM.   +4 more
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

An overview on cardiac involvement in Inborn Errors of Metabolism: from clinical clues to nutritional management strategies. [PDF]

Front Cardiovasc Med
Montanari C, Tagi VM, Tosi M, Stucchi E, Pisano EM, Raso I, Fini G, Fiori L, Mannarino S, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Inborn Errors of Iodine Metabolism [PDF]

Postgraduate Medical Journal, 1960
openaire   +2 more sources

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

Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Díaz-López EJ, Fernández-Pombo A, Hermida-Ameijeiras Á, Gómez-Vázquez E, Rodríguez-Carnero G, Jiménez-López N, Villar-Taibo R, Cantón-Blanco A, Muñoz-Leira V, Sánchez-Pintos P, Couce ML, Olmos MAM.   +11 more
europepmc   +1 more source

The cerebral palsy directed acyclic graph: A structural causal model of aetiology

Developmental Medicine &Child Neurology, EarlyView.
The first international cerebral palsy directed acyclic graph (CP‐DAG) maps over 100 nodes and 370 links across biological, clinical, and social domains, offering a unified causal framework to guide research and identify knowledge gaps. Abstract Aim To describe the development of the initial version of the cerebral palsy (CP) directed acyclic graph ...
Shona Goldsmith, Sarah McIntyre, Nadia Badawi, Bernard Dan, Steven Day, Kate Himmelmann, Sandra Julsen Hollung, Bo Jacobsson, Gija Rackauskaite, Robert J. Reynolds   +9 more
wiley   +1 more source

Updated Gene Therapy for Renal Inborn Errors of Metabolism. [PDF]

Genes (Basel)
Hergenrother S, Husein M, Thompson C, Kalina E, Raina R.   +4 more
europepmc   +1 more source

Maternal glycaemia and child educational attainment at age 5 in the Born in Bradford cohort

Diabetic Medicine, EarlyView.
Abstract Aims There is emerging evidence that maternal hyperglycaemia may be associated with adverse offspring neuro‐behavioural outcomes, which are foundational to educational success. We hypothesised that higher levels of maternal glucose would be associated with poorer educational attainment in early childhood.
Claire A. Wilson, Gillian Santorelli, Emily Simonoff, Louise M. Howard, Khalida Ismail, Rebecca M. Reynolds   +5 more
wiley   +1 more source