José R
Alonso Fernández
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Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (13)
2023
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Four Decades of Newborn Screening: A Historical Perspective of Laboratory Practices
OBM Genetics, Vol. 7, Núm. 4
2021
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Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders
Journal of Inborn Errors of Metabolism and Screening, Vol. 9
2013
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Copper nanowires immobilized on the boards of microfluidic chips for the rapid and simultaneous diagnosis of galactosemia diseases in newborn urine samples
Analytical Chemistry, Vol. 85, Núm. 19, pp. 9116-9125
2012
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Dietary Sugars: TLC Screening of Sugars in Urine and Blood Samples
DIETARY SUGARS: CHEMISTRY, ANALYSIS, FUNCTION AND EFFECTS (ROYAL SOC CHEMISTRY), pp. 186-207
2011
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Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh
JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211
2010
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Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: Preliminary results of an improved DMB-based procedure
Journal of Clinical Laboratory Analysis, Vol. 24, Núm. 3, pp. 149-153
2009
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The contributions of Louis i Woolf to the treatment, early diagnosis and understanding of phenylketonuria
Journal of Medical Screening, Vol. 16, Núm. 4, pp. 205-211
1996
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New approach to paper chromatographic blots classification-separation based on the Levenberg-Marquardt method for Gaussian fitting
Annual International Conference of the IEEE Engineering in Medicine and Biology - Proceedings
1995
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Detection of Brucella antibodies in eluted dried blood: a validation study
Immunology Letters, Vol. 45, Núm. 1-2, pp. 107-108
1983
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Selenium state of children. The selenium content of the serum of normal children and children with inborn errors of metabolism
Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 99-100
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The determination of copper and zinc in microsamples of undeproteinized blood serum using atomic absorption spectrophotometry with direct flame injection
Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 91-92
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The use of continuous thin layer chromatography in the study of mucopolysaccharidoses
Journal of Inherited Metabolic Disease, Vol. 6, Núm. 2 Supplement, pp. 135-136
1981
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Continuos thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper
Journal of Chromatography A, Vol. 217, Núm. C, pp. 357-366