E-LIB Suche - Ergebnisse für: Cocho, José

1

A newborn Screening Programme for Inborn errors of metaboli..:

Couce, María L. ; Bóveda, María-Dolores ; Castiñeiras, Daisy E....
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Trace elements in dried blood spots as potential discrimina..:

Moreda-Piñeiro, Jorge ; Cocho, José A ; Couce, María Luz..
Metallomics. 13 (2021) 5 - p. , 2021

Link: https://doi.org/10.1093/..

3

LINCE project: A fast diagnosis of CLN2 disease:

Crujeiras, Pablo ; Rodrigues, Daniel C. ; Cocho, José..
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S44 , 2020

Link: https://doi.org/10.1016/..

4

Acylcarnitine profile in neonatal hypoxic-ischemic encephal..:

López-Suárez, Olalla ; Concheiro-Guisán, Ana ; Sánchez-Pintos, Paula...
Medicine. 98 (2019) 15 - p. e15221 , 2019

Link: https://doi.org/10.1097/..

5

Clinical mass spectrometry proteomics (cMSP) for medical la..:

Lehmann, Sylvain ; Brede, Cato ; Lescuyer, Pierre...
Clinica Chimica Acta. 467 (2017) - p. 51-58 , 2017

Link: https://doi.org/10.1016/..

6

Corrigendum to "A glimpse into past, present, and future DN..:

Morey, Marcos ; Fernández-Marmiesse, Ana ; Castiñeiras, Daisy...
Molecular Genetics and Metabolism. 114 (2015) 3 - p. 484 , 2015

Link: https://doi.org/10.1016/..

7

Assessment of a targeted resequencing assay as a support to..:

Fernández-Marmiesse, Ana ; Morey, Marcos ; Pineda, Merce...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. 59 , 2014

Link: https://doi.org/10.1186/..

8

Newborn screening for medium-chain acyl-CoA dehydrogenase d..:

Couce, Maria ; Sánchez-Pintos, Paula ; Diogo, Luisa...
Orphanet Journal of Rare Diseases. 8 (2013) 1 - p. 102 , 2013

Link: https://doi.org/10.1186/..

9

Neuropeptide Kyotorphin (Tyrosyl-Arginine) has Decreased Le..:

Santos, Sara Matos ; Garcia-Nimo, Laura ; Sá Santos, Sónia...
Frontiers in Aging Neuroscience. 5 (2013) - p. , 2013

Link: https://doi.org/10.3389/..

10

Quantitative Clinical Chemistry Proteomics (qCCP) using mas..:

Lehmann, Sylvain ; Hoofnagle, Andrew ; Hochstrasser, Denis...
Clinical Chemistry and Laboratory Medicine. 51 (2013) 5 - p. , 2013

Link: https://doi.org/10.1515/..

11

A glimpse into past, present, and future DNA sequencing:

Morey, Marcos ; Fernández-Marmiesse, Ana ; Castiñeiras, Daisy...
Molecular Genetics and Metabolism. 110 (2013) 1-2 - p. 3-24 , 2013

Link: https://doi.org/10.1016/..

12

Glutaric aciduria type I: Outcome of patients with early- v..:

Couce, Ma Luz ; López-Suárez, Olalla ; Bóveda, Ma Dolores...
European Journal of Paediatric Neurology. 17 (2013) 4 - p. 383-389 , 2013

Link: https://doi.org/10.1016/..

13

Development of electrospray ionization tandem mass spectrom..:

Rebollido‐Fernandez, M. Maira ; Castiñeiras, Daisy E. ; Dolores Bóveda, M....
Rapid Communications in Mass Spectrometry. 26 (2012) 18 - p. 2131-2144 , 2012

Link: https://doi.org/10.1002/..

14

Evaluation and long-term follow-up of infants with inborn e..:

Couce, Ma Luz ; Castiñeiras, Daisy E. ; Bóveda, Ma Dolores...
Molecular Genetics and Metabolism. 104 (2011) 4 - p. 470-475 , 2011

Link: https://doi.org/10.1016/..

15

Selenium speciation in cow milk obtained after supplementat..:

Muñiz-Naveiro, Óscar ; Domínguez-González, Raquel ; Bermejo-Barrera, Adela...
Talanta. 71 (2007) 4 - p. 1587-1593 , 2007

Link: https://doi.org/10.1016/..