Results 311 to 320 of about 1,348,248 (398)

Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias. [PDF]

Int J Neonatal Screen
Lin Y, Zhong J, Peng W, Zheng F, Wang X.
europepmc   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis. [PDF]

Int J Neonatal Screen
Thampy R, Pillai NR, Evans M, Whitley CB, Orchard PJ, Ellinwood M, Gaviglio A.   +6 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Evaluation of the Newborn Metabolic Screening Form for Surveillance of Postpartum Patients for Hepatitis B Infection in New York City, 2019-2022. [PDF]

Public Health Rep
Matalka O, Lazaroff J, Rosen JB, Arciuolo RJ.   +3 more
europepmc   +1 more source

Choroid plexus modulates subventricular zone adult neurogenesis and olfaction through secretion of small extracellular vesicles. [PDF]

Fluids Barriers CNS
Liu LL, Shannahan J, Zheng W.
europepmc   +1 more source

Essential newborn care practices and determinants in Ethiopia: a multilevel analysis of national survey data. [PDF]

BMJ Open
Mekonnen TS, Delie AM, Hailu M, Mehari MG, Bizuneh GK, Mengistie BA.   +5 more
europepmc   +1 more source

Newborn examination practices and congenital anomaly detection in public health facilities in Addis Ababa, Ethiopia: a qualitative exploratory study. [PDF]

Front Pediatr
Alemu MT, Abate F, Mollenhauer C, Brewster H, Habel A, Mulatu E, Taylor S, Eshete M.   +7 more
europepmc   +1 more source

Maternal BMI, early-life growth, and atopic dermatitis by age 3 years. [PDF]

J Allergy Clin Immunol Glob
Berents FV, Skram MK, Lødrup Carlsen KC, Granum B, Haugen G, Hedlin G, Jonassen CM, Nordlund B, Reiner A, Skjerven HO, Staff AC, Svanes C, Vettukattil R, Söderhäll C, Rehbinder EM.   +14 more
europepmc   +1 more source

From little things big things grow: Implementation of the MSF Newborn Care online learning hub

James Thomson, M Clarisse, Sofia Cavaco
openalex   +2 more sources