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Neonatal Screening
Known as:
Newborn Infant Screenings
, Screenings, Neonatal
, Screening, Newborn Infant
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The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by…
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National Institutes of Health
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Related topics
Related topics
8 relations
Genetic screening method
Newborn Examination
Perinatal Terminology
Phenylketonurias
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2008
Highly Cited
2008
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Angéla Dajnoki
,
A. Mühl
,
+5 authors
O. Bodamer
Clinical Chemistry
2008
Corpus ID: 22491853
BACKGROUND Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that…
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Highly Cited
2006
Highly Cited
2006
Storage and use of residual dried blood spots from state newborn screening programs.
R. Olney
,
C. Moore
,
Jelili Ojodu
,
M. Lindegren
,
W. H. Hannon
Jornal de Pediatria
2006
Corpus ID: 42727579
Highly Cited
2003
Highly Cited
2003
Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
D. Koeberl
,
S. Young
,
+11 authors
D. Millington
Pediatric Research
2003
Corpus ID: 21990845
Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short…
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Highly Cited
2002
Highly Cited
2002
Family reactions during infants' hospitalization in the neonatal intensive care unit.
M. Spear
,
K. Leef
,
S. Epps
,
R. Locke
American Journal of Perinatology
2002
Corpus ID: 25542923
The purpose of this investigation is to assess family stress, coping, perceptions of their infant, and alterations in mood that…
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Review
2002
Review
2002
Newborn screening program practices in the United States: notification, research, and consent.
K. Mandl
,
Shlomit Feit
,
C. Larson
,
I. Kohane
Pediatrics
2002
Corpus ID: 20600372
OBJECTIVE To define current practice among US newborn screening programs for notification of results, research, and consenting…
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Highly Cited
2000
Highly Cited
2000
Antenatal and neonatal screening
N. Wald
,
I. Leck
2000
Corpus ID: 53894068
Foreword Richard Doll INTRODUCTION Principles of screening I: single tests Principles of screening II: multiple tests PART I…
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Highly Cited
1989
Highly Cited
1989
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.
S. Lyonnet
,
Catherine Caillaud
,
+4 authors
Arnold Munnich
American Journal of Human Genetics
1989
Corpus ID: 11274744
We report the characterization of a mutation in the phenylalanine hydroxylase (PAH) gene associated with partial residual…
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Review
1982
Review
1982
The current status of newborn screening.
Harvey L. Levy
,
Marvin L. Mitchell
Hospital Practice
1982
Corpus ID: 34245525
Two decades of routine screening of newborns in the United States have yielded answers to many questions and raised others that…
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Highly Cited
1974
Highly Cited
1974
Growth and Development of the Thyroidectomized Ovine Fetus
A. Erenberg
,
K. Omori
,
J. Menkes
,
W. Oh
,
D. A. Fisher
Pediatric Research
1974
Corpus ID: 31587693
Extract: Thyroidectomies were performed through a flank incision and uterotomy on five fetuses of 1–4-year-old Columbia and…
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Highly Cited
1970
Highly Cited
1970
Metabolic activities in leukocytes of newborn infants.
B. Park
,
B. Holmes
,
R. Good
Jornal de Pediatria
1970
Corpus ID: 44993448
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