about
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening.Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples.Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure.Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution.Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]Three novel mutations in the CFTR gene identified in Galician patientsEvaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programmeNewborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-8892-6219
@en
name
José Ramón Alonso-Fernández
@ast
José Ramón Alonso-Fernández
@en
José Ramón Alonso-Fernández
@es
José Ramón Alonso-Fernández
@nl
type
label
José Ramón Alonso-Fernández
@ast
José Ramón Alonso-Fernández
@en
José Ramón Alonso-Fernández
@es
José Ramón Alonso-Fernández
@nl
prefLabel
José Ramón Alonso-Fernández
@ast
José Ramón Alonso-Fernández
@en
José Ramón Alonso-Fernández
@es
José Ramón Alonso-Fernández
@nl
P106
P1153
6602542485
P21
P31
P496
0000-0001-8892-6219