Navegar por autor "Cocho de Juan, José Ángel"

A glimpse into past, present, and future DNA sequencing

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Morey Villar, Marcos; [et al.]

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013)

2015- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Morey Villar, Marcos; [et al.]

An improved method for the determination of Delta 9-tetrahydrocannabinol, cannabinol and cannabidiol in hair by liquid chromatography-tandem mass spectrometry

2014- Cocho de Juan, José Ángel

Application of dispersive liquid-liquid microextraction for the determination of phosphatidylethanol in blood by liquid chromatography tandem mass spectrometry

2013- Cocho de Juan, José Ángel

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

2014- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Castro Gago, Manuel; [et al.]

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

2011- Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

2014- Couce Pico, María Luz; Cocho de Juan, José Ángel

Determinación de ácido etilendiaminotetraacético por espectrometría de masas en tándem en muestras de sangre impregnadas en papel. Utilidad en la medida de tirotropina para cribado neonatal de hipotiroidismo congénito

2012- Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Pérez Suarez, Luis Fernando; [et al.]

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

2012- Couce Pico, María Luz; Rebollido Fernández, María; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; [et al.]

Direct tandem mass spectrometry for the simultaneous assay of opioids, cocaine and metabolites in dried urine spots

2013- Cocho de Juan, José Ángel

Electrospray ionization tandem mass spectrometry for the simultaneous determination of opiates and cocaine in human hair

2011- Cocho de Juan, José Ángel

Enhanced interpretation of newborn screening results without analyte cutoff values

2012- Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

2011- Couce Pico, María Luz; Baña Souto, Ana Maria; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; [et al.]

Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; García Nimo, Laura; [et al.]

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; [et al.]

Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

2020- Laeremans, H.; Turner, C.; Andersson, T.; Cocho de Juan, José Ángel; Gerrard, A.; [et al.]

Neuropeptide kyotorphin (tyrosyl-arginine) has decreased levels in the cerebro-spinal fluid of Alzheimer's disease patients: potential diagnostic and pharmacologic alimplications

2013- Cocho de Juan, José Ángel; García Nimo, Laura

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Sánchez Pintos, Paula [et al.]

Novel mutations in the carboxy-terminal region of DEHAL1 and iodotyrosine dehalogenase deficiency

2013- Cocho de Juan, José Ángel; García Nimo, Laura

Percentiles de carnitina y acilcarnitinas en muestras de cribado neonatal de prematuros de muy bajo peso

2015- Couce Pico, María Luz; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Pérez Muñuzuri, Alejandro; Sánchez Pintos, Paula [et al.]

O repositorio dixital RUNA

Navegar por autor "Cocho de Juan, José Ángel"

A glimpse into past, present, and future DNA sequencing ﻿

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013) ﻿

An improved method for the determination of Delta 9-tetrahydrocannabinol, cannabinol and cannabidiol in hair by liquid chromatography-tandem mass spectrometry ﻿

Application of dispersive liquid-liquid microextraction for the determination of phosphatidylethanol in blood by liquid chromatography tandem mass spectrometry ﻿

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders ﻿

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project ﻿

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice ﻿

Determinación de ácido etilendiaminotetraacético por espectrometría de masas en tándem en muestras de sangre impregnadas en papel. Utilidad en la medida de tirotropina para cribado neonatal de hipotiroidismo congénito ﻿

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism ﻿

Direct tandem mass spectrometry for the simultaneous assay of opioids, cocaine and metabolites in dried urine spots ﻿

Electrospray ionization tandem mass spectrometry for the simultaneous determination of opiates and cocaine in human hair ﻿

Enhanced interpretation of newborn screening results without analyte cutoff values ﻿

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme ﻿

Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation ﻿

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis ﻿

Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples ﻿

Neuropeptide kyotorphin (tyrosyl-arginine) has decreased levels in the cerebro-spinal fluid of Alzheimer's disease patients: potential diagnostic and pharmacologic alimplications ﻿

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency ﻿

Novel mutations in the carboxy-terminal region of DEHAL1 and iodotyrosine dehalogenase deficiency ﻿

Percentiles de carnitina y acilcarnitinas en muestras de cribado neonatal de prematuros de muy bajo peso ﻿

A glimpse into past, present, and future DNA sequencing

A glimpse into past, present, and future DNA sequencing (vol 110, pg 3, 2013)

An improved method for the determination of Delta 9-tetrahydrocannabinol, cannabinol and cannabidiol in hair by liquid chromatography-tandem mass spectrometry

Application of dispersive liquid-liquid microextraction for the determination of phosphatidylethanol in blood by liquid chromatography tandem mass spectrometry

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Determinación de ácido etilendiaminotetraacético por espectrometría de masas en tándem en muestras de sangre impregnadas en papel. Utilidad en la medida de tirotropina para cribado neonatal de hipotiroidismo congénito

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

Direct tandem mass spectrometry for the simultaneous assay of opioids, cocaine and metabolites in dried urine spots

Electrospray ionization tandem mass spectrometry for the simultaneous determination of opiates and cocaine in human hair

Enhanced interpretation of newborn screening results without analyte cutoff values

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation

Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis

Inter-laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

Neuropeptide kyotorphin (tyrosyl-arginine) has decreased levels in the cerebro-spinal fluid of Alzheimer's disease patients: potential diagnostic and pharmacologic alimplications

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Novel mutations in the carboxy-terminal region of DEHAL1 and iodotyrosine dehalogenase deficiency

Percentiles de carnitina y acilcarnitinas en muestras de cribado neonatal de prematuros de muy bajo peso