Update on Newborn Screening [PDF]
North Carolina Medical Journal, 2013 Since phenylketonuria was first screened for in the 1960s, newborn screening has expanded to include more than 30 conditions. This commentary provides an update on newborn screening, including the follow-up of abnormal findings, the limitations of such screening, and the ethical questions that screening raises.
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Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
core
Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]
, 1996 Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Felice, Alex +3 more
core
The Rapid and Sensitive Quantitative Determination of Galactose by Combined Enzymatic and Colorimetric Method: Application in Neonatal Screening [PDF]
, 2016 The quantitative measurement of galactose in blood is essential for the early diagnosis, treatment, and dietary monitoring of galactosemia patients. In this communication, we aimed to develop a rapid, sensitive, and cost-effective combined method for ...
Ansari, J. +4 more
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Advanced Science, EarlyView.Pinoresinol diglucoside, a bioactive component extracted from traditional Chinese medicine, attenuates cisplatin‐induced ototoxicity in vivo and in vitro. The protective effect is achieved by downregulation of Socs1. The present study is the first to investigate the expression and function of Socs1 in inner ear, which is known to promote ferroptosis ...
Yin Chen +12 more
wiley +1 more source
959 ESTIMATION OF CORD BILIRUBIN AS A MEANS OF SCREENING NEWBORNS AT RISK OF NEONATAL HYPERBILIRUBINEMIA [PDF]
, 1978 Antoine K. Fomufod
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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]
, 2015 Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A +6 more
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AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells
Advanced Science, EarlyView.Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu +8 more
wiley +1 more source
Newborn Screening: Current Status in Alberta, Canada
International Journal of Neonatal Screening, 2019 Newborn screening (NBS) in Alberta is delivered by a number of government and health service entities who work together to provide newborn screening to infants born in Alberta, the Northwest Territories, and the Kitikmeot region of the Nunavut territory.
Andy De Souza +11 more
doaj +1 more source
435 A PILOT NEWBORN SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) AT NEW YORK HOSPITAL(NYH)AND ALASKA [PDF]
, 1981 Samantha Murphy +5 more
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