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Top Articles

#TitleJournalYearCitations
1Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorderScreening: Journal of the International Society of Neonatal Screening1993147
2The origin of newborn screeningScreening: Journal of the International Society of Neonatal Screening199288
3Newborn screening for cystic fibrosis: Its evolution and a review of the current situationScreening: Journal of the International Society of Neonatal Screening199364
4U.S. newborn screening system guidelines: Statement of the council of regional networks for genetic servicesScreening: Journal of the International Society of Neonatal Screening199256
5Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17α-hydroxyprogesterone to gestational ageScreening: Journal of the International Society of Neonatal Screening199447
6Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in DenmarkScreening: Journal of the International Society of Neonatal Screening199336
7Nationwide survey of neonatal mass-screening for congenital adrenal hyperplasia in JapanScreening: Journal of the International Society of Neonatal Screening199431
8Quality control for bacterial inhibition assays: DNA fingerprinting of microorganisms by rep-PCRScreening: Journal of the International Society of Neonatal Screening199227
9A method of PKU screening using phenylalanine dehydrogenase and microplate systemScreening: Journal of the International Society of Neonatal Screening199226
10Microassay system for newborn screening for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia and galactosemia with use of a fluorometric microplate readerScreening: Journal of the International Society of Neonatal Screening199224
11Validity of screening early collected newborn specimens for phenylketonuria using a fluorometric methodScreening: Journal of the International Society of Neonatal Screening199421
12Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileusScreening: Journal of the International Society of Neonatal Screening199319
13Influence of iodine excess due to iodine-containing antiseptics on neonatal screening for congenital hypothyroidism in Hokkaido prefecture, JapanScreening: Journal of the International Society of Neonatal Screening199419
14Incidence of congenital malformations in congenital hypothyroidismScreening: Journal of the International Society of Neonatal Screening199417
15Neonatal mass screening for biliary atresiaScreening: Journal of the International Society of Neonatal Screening199316
16Neonatal screening for Duchenne/Becker muscular dystrophy; Reconsideration based on molecular diagnosis and potential therapeuticsScreening: Journal of the International Society of Neonatal Screening199215
17Screening of half a million Swedish newborn infants for congenital adrenal hyperplasiaScreening: Journal of the International Society of Neonatal Screening199214
18Effect of specimen collection method on newborn screening for PKUScreening: Journal of the International Society of Neonatal Screening199414
19Results of pilot screening activities in the French neonatal screening program — cystic fibrosis, congenital adrenal hyperplasia and sickle cell diseaseScreening: Journal of the International Society of Neonatal Screening199313
20Evaluation of an enzymatic, colorimetric method for the neonatal screening of phenylketonuriaScreening: Journal of the International Society of Neonatal Screening199313
21A new method to detect homocysteine in dried blood spots using thin layer chromatographyScreening: Journal of the International Society of Neonatal Screening199513
22Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemiaScreening: Journal of the International Society of Neonatal Screening199513
23Screening tests for adenylosuccinase deficiencyScreening: Journal of the International Society of Neonatal Screening199513
24Neonatal screening in FranceScreening: Journal of the International Society of Neonatal Screening199312
25Early discharge from the newborn nurseryScreening: Journal of the International Society of Neonatal Screening199412
26Phenylketonuria screening using the Quantase phenylalanine kit in combination with a microfilter system and the dye TartrazineScreening: Journal of the International Society of Neonatal Screening199512
27Cognitive function in early treated biotinidase deficiency: Follow-up of children detected by newborn screeningScreening: Journal of the International Society of Neonatal Screening199511
28Comparison of the effects of season and prematurity on the enzymatic newborn screening tests for galactosemia and biotinidase deficiencyScreening: Journal of the International Society of Neonatal Screening199310
29Use of the Guthrie bacterial inhibition assay to monitor blood phenylalanine for dietary treatment of phenylketonuriaScreening: Journal of the International Society of Neonatal Screening199610
30Newborn screening for biotinidase deficiency: pilot study and follow-up of identified casesScreening: Journal of the International Society of Neonatal Screening19929
31Erythrocyte uridine diphosphate galactose-4-epimerase deficiency identified by newborn screening for galactosemia in the United StatesScreening: Journal of the International Society of Neonatal Screening19939
32Results of screening for phenylketonuria using a lower cutoff value in early collected specimensScreening: Journal of the International Society of Neonatal Screening19959
33Phenylketonuria screening in Moscow using a microplate fluorometric methodScreening: Journal of the International Society of Neonatal Screening19928
34Neuropsychological development during the first two years in children with congenital hypothyroidism screened at birth: the Cuban experienceScreening: Journal of the International Society of Neonatal Screening19928
35A quantitative fluorometric micromethod used for the neonatal screening of biotinidase deficiency in FinlandScreening: Journal of the International Society of Neonatal Screening19927
36Comparison of HPLC and ELISA methods in neuroblastoma screeningScreening: Journal of the International Society of Neonatal Screening19937
37An audit of infants ‘unscreened’ by the neonatal screening system in Scotland during 1991Screening: Journal of the International Society of Neonatal Screening19957
38Neonatal screening for cystic fibrosis using blood trypsin with complementary meconium lactase: an advisable strategy for the population of southern EuropeScreening: Journal of the International Society of Neonatal Screening19957
39Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newbornsScreening: Journal of the International Society of Neonatal Screening19967
40Screening for neuroblastoma in infants: more questions than answersScreening: Journal of the International Society of Neonatal Screening19926
41What do immunoreactive trypsin assays measure?Screening: Journal of the International Society of Neonatal Screening19946
42Neonatal PKU screening in Turkey: 7 years experience in a developing countryScreening: Journal of the International Society of Neonatal Screening19956
43Fragile X syndrome: examination of issues pertaining to population-based screeningScreening: Journal of the International Society of Neonatal Screening19966
44Mass screening to identify babies with dyslipoproteinemia by measuring the levels of apoA-I, apoB and the ratio of apoB to apoA-I on dried blood spotsScreening: Journal of the International Society of Neonatal Screening19925
45Cystic fibrosis neonatal screening — A continuing dilemma, especially in North AmericaScreening: Journal of the International Society of Neonatal Screening19935
46Early newborn specimen: Survey of practices among newborn screening programs in the United StatesScreening: Journal of the International Society of Neonatal Screening19955
47The addition of dopamine determination to the measurement of acidic catecholamine metabolites in urine screening for neuroblastomaScreening: Journal of the International Society of Neonatal Screening19955
48Later manifestations of congenital hypothyroidism predicted by slightly elevated thyrotropin levels in neonatal screeningScreening: Journal of the International Society of Neonatal Screening19955
49Screening infants for neuroblastoma in JapanScreening: Journal of the International Society of Neonatal Screening19924
50Twenty-five years experience with newborn screening for phenylketonuria (PKU) in PolandScreening: Journal of the International Society of Neonatal Screening19934