Latest papers

Malonylcarnitine in newborns with non-syndromic cleft lip with or without cleft palate.

[French guidelines for sweat test practice and interpretation for cystic fibrosis neonatal screening].

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.

Applicability of real-time PCR methodology in the neonatal detection of Turner syndrome.

Cytogenetic analysis of 1572 cases of Down syndrome: a report of double aneuploidy and novel findings 47,XY, t(14;21)(q13;q22.3)mat,+21 and 45,XX,t(14;21) in an Indian population.

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.

Detecting neonatal jaundice.

Confirmation of neonatal screening: reference intervals and evaluation of methodological changes in TSH measurement.

Primary care clinicians' knowledge and confidence about newborn screening for sickle cell disease: randomized assessment of educational strategies.

Screening newborns for congenital cytomegalovirus infection.

Screening newborns for congenital cytomegalovirus infection.

Positive neonatal screening for cystic fibrosis in neonates with renal failure.

Declining prevalence of cystic fibrosis since the introduction of newborn screening.

Newborn and carrier screening for spinal muscular atrophy.

Newborn screening of lysosomal storage disorders.

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Task-oriented and bottle feeding adversely affect the quality of mother-infant interactions after abnormal newborn screens.

Implementing neonatal screening for haemoglobinopathies in the Netherlands.

The efficacy of a neonatal screening programme in decreasing the hospitalization rate of patients with G6PD deficiency in southern Iran.

Day 1 serum lactate values in preterm infants less than 32 weeks gestation.