Results 191 to 200 of about 230,705 (317)

High-Frequency TEOAE Amplitude Ratio Alterations in Newborns Exposed in Utero to Maternal SARS-CoV-2 Infection: A Prospective Cohort Study. [PDF]

Medicina (Kaunas)
Malesci R, Freda G, Serra N, Salomè S, Laria C, Fetoni AR.   +5 more
europepmc   +1 more source

Cardiac Allotransplantation in Newborns

, 1987
Bryant, James
core  

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Association Analysis of the <i>AGTR2:</i>rs1403543 Polymorphism with Newborn Kidney Size. [PDF]

Genes (Basel)
Miler K, Gorący I, Łoniewska B, Lewandowska K, Lica-Miler M, Rychel M, Ciechanowicz A.   +6 more
europepmc   +1 more source

Early Discharge of Newborns

, 1997
Lupatkin, William L., Cook, Joseph V., Davis, Robert L., Cass, Alvah R., Braveman, Paula, Lariviere, Patricia, Shay, David K., Stoddard, Jeffrey J., Williams, David V., Clemens, Conrad J., Jerant, Anthony F., Wetstone, Howard W., Kessel, Woodie, Novack, Alvin H., Liu, Lenna L., Woronick, Charles L., Egerter, Susan, Edmonson, M. Bruce, Epperly, Ted D., Richmond, Julius, Volk, Robert J.   +20 more
core  

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

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 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

Hospital organisation and healthcare providers' barriers in the management of fetuses and newborns affected by life-limiting or life-threatening conditions in Italy: a national survey. [PDF]

Eur J Pediatr
Burlo F, De Zen L, Pagnini A, Travan L.
europepmc   +1 more source