about
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.A glimpse into past, present, and future DNA sequencing.Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian PeninsulaEffects of different arachidonic acid supplementation on psychomotor development in very preterm infants; a randomized controlled trial.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).Long-term pharmacological management of phenylketonuria, including patients below the age of 4 years.[Update of knowledge, recommendations and full consensus about the role of long chain polyunsaturated fatty acids in pregnancy, lactating period and first year of life.Asociación Española de Pediatría. Sociedad Española de Ginecología y Obstetricia.Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening.New insights in growth of phenylketonuric patients.Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221].Selenium speciation in cow milk obtained after supplementation with different selenium forms to the cow feed using liquid chromatography coupled with hydride generation-atomic fluorescence spectrometry.Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.Speciation of zinc in low molecular weight proteins of breast milk and infant formulas by size exclusion chromatography/flame atomic absorption spectroscopy.Evaluation of carnitine deficit in very low birth weight preterm newborns small for their gestational age.Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24].[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].[Carnitine and acylcarnitine percentiles in very low birth weight premature newborn screening samples].[Neonatal sepsis: epidemiologic indicators and relation to birth weight and length of hospitalization time]Hardware-software approach for neonatal cardiovascular risk estimation.Study of the bioavailability of selenium in cows’ milk after a supplementation of cow feed with different forms of seleniumDetermination of total selenium and selenium distribution in the milk phases in commercial cow?s milk by HG-AASEnzymolysis Approach to Compare Cu Availability from Human Milk and Infant FormulasStudy of the effect of different iron salts used to fortify infant formulas on the bioavailability of trace elements using ICP-OESIron and zinc in hydrolised fractions of human milk and infant formulas using an in vitro methodCopper fractionation by SEC-HPLC and ETAAS: Study of breast milk and infant formulae whey used in lactation of full-term newborn infantsDetermination of selenium in infant formulas whey fractions by SEC-HPLC-HG-ETAASChromium content in human milk, cow's milk, and infant formulasCord serum gamma glutamyltransferase in newbornsNutritional and growth status in children and adolescents of Galicia: anthropometric and biochemical surveyContinuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper[Prophylaxis and treatment of streptococcus infections (author's transl)]Neonatal cardiovascular dynamics in relation to matroclinous and patroclinous history of high blood pressure[Rotavirus: clinical and epidemiological study in hospitalized children under two years of age][Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatmentEvaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme[Use of erythropoietin in the management of anaemia in patients with pyroglutamic aciduria]
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P50
description
onderzoeker
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researcher ORCID ID = 0000-0001-8897-3621
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José M Fraga
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José M Fraga
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José M Fraga
@es
José M Fraga
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type
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José M Fraga
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José M Fraga
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José M Fraga
@es
José M Fraga
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José M Fraga
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José M Fraga
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José M Fraga
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José M Fraga
@nl
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P31
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0000-0001-8897-3621