Navegar por autor "Castiñeiras Ramos, Daisy E"

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.]

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 and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [et al.]

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

2015- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [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

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.]

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.]

Evolution of patients with methionine adenosyltransferase (MAT) I/III deficiency detected by neonatal screening in Spain

2013- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Iglesias Rodríguez, Agustín Javier [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.]

Hallazgos clinicos y geneticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabolicas hereditarias.

2011- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Fraga Bermúdez, José María

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

2021- COLLAZO ABAL, CRISTINA; ROMERO SANTOS, SUSANA; González Mao, Maria del Carmen; PAZOS LAGO, EMILIO CARLOS; BARROS ANGUEIRA, FRANCISCO; [et al.]

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.]

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

2011- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Cocho de Juan, José Ángel; Fraga Bermúdez, José María; Moure González, José Domingo; [et al.]

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings

2014- Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Fraga Bermúdez, José María; Fernández Marmiesse, Ana [et al.]

The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity.

2011- Castiñeiras Ramos, Daisy E; Castro Gago, Manuel; Rodríguez-Segade Villamarín, Santiago; Gómez Lado, María del Carmen; Perez Gay, Laura; [et al.]

Repositorio digital RUNA

Navegar por autor "Castiñeiras Ramos, Daisy E"

A glimpse into past, present, and future DNA sequencing ﻿

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

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

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening ﻿

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013) ﻿

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

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 ﻿

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 ﻿

Evolution of patients with methionine adenosyltransferase (MAT) I/III deficiency detected by neonatal screening in Spain ﻿

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 ﻿

Hallazgos clinicos y geneticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabolicas hereditarias. ﻿

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I ﻿

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

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain). ﻿

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings ﻿

The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity. ﻿

A glimpse into past, present, and future DNA sequencing

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

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

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening (vol 110, pg 218, 2013)

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

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

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

Evolution of patients with methionine adenosyltransferase (MAT) I/III deficiency detected by neonatal screening in Spain

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

Hallazgos clinicos y geneticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabolicas hereditarias.

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

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

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings

The influence of valproic acid and carbamazepine treatment on serum biotin and zinc levels and on biotinidase activity.