Results 351 to 360 of about 1,922,511 (410)

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

open access: yesJAMA
Ziegler A   +49 more
europepmc   +1 more source

Newborn Screening

Critical Reviews in Clinical Laboratory Sciences, 2009
Screening newborns for inherited disorders provides an opportunity for pre-symptomatic identification and early intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since the introduction of newborn screening in 1962 to screen for phenylketonuria, technological advances have enabled the screening panel to expand
Inderneel, Sahai, Deborah, Marsden
openaire   +2 more sources

Newborn Screening

Pediatric Clinics of North America, 2023
The goal of newborn screening is to identify medical conditions that can cause significant morbidity and/or mortality if not treated early in life. Pediatricians often play a vital role in the initial disclosure of newborn screening results and coordination of confirmatory testing, treatment, and referral to specialty care.
openaire   +2 more sources

Newborn screening

Pathology, 2008
The aim of newborn screening is to detect newborns with serious, treatable disorders so as to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass biochemical testing of newborn babies was pioneered in the 1960s with the introduction of screening for phenylketonuria, a rare inborn error of metabolism, tested by using a ...
Bridget, Wilcken, Veronica, Wiley
openaire   +2 more sources

Newborn Screening

Pediatrics, 1984
To the Editor.— With publication of recommendations on newborn screening by the Committee on Genetics of the American Academy of Pediatrics1 and now similar recommendations by McCabe et al,2 a consensus on realistic procedures for newborn screening is developing.
H L, Levy, M L, Mitchell, S E, Ridley
openaire   +2 more sources

Metabolic screening for the newborn

The Journal of Maternal-Fetal & Neonatal Medicine, 2011
The advent of tandem mass spectrometry (MS/MS) around 10 years ago allowed to enlarge consistently the spectrum of metabolic diseases that might be easily and quickly detected. MS/MS was applied to newborn screening in many developed countries, with a wide use, to detect as many as 55 abnormal biochemical conditions (USA), or a restricted one detecting
Rossella Parini, Carlo Corbetta
openaire   +3 more sources

Newborn Screening

Clinics in Perinatology, 2015
Newborn screening is a major aspect of public health success. Babies in every state are tested for a recommended uniform screening panel of conditions not otherwise immediately evident in the first days of life. With the goal of reducing morbidity and mortality, conditions should be added to newborn screening panels using a scientific, evidence-based ...
openaire   +2 more sources

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