E-LIB Suche - Ergebnisse für: Castiñeiras, Daisy

1

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/..

2

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/..

3

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/..

4

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/..

5

Corrigendum to "Clinical and metabolic findings in patients..:

Couce, María L. ; Dolores Bóveda, M. ; García-Jimémez, Concepción...
Molecular Genetics and Metabolism. 114 (2015) 3 - p. 486 , 2015

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

6

The early detection of Salla disease through second-tier te..:

Couce, María L. ; Macías-Vidal, Judit ; Castiñeiras, Daisy E....
European Journal of Medical Genetics. 57 (2014) 9 - p. 527-531 , 2014

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

7

Clinical and metabolic findings in patients with methionine..:

Couce, María L. ; Bóveda, M. Dolores ; García-Jimémez, Concepción...
Molecular Genetics and Metabolism. 110 (2013) 3 - p. 218-221 , 2013

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

8

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/..

9

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/..

10

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/..

11

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/..

12

Identification of a new mutation in the human xanthine dehy..:

Collazo Abal, Cristina ; Romero Santos, Susana ; González Mao, Carmen...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 4 - p. 567-570 , 2021

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

13

Identificación de una nueva mutación en el gen humano xanti..:

Collazo Abal, Cristina ; Romero Santos, Susana ; González Mao, Carmen...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 4 - p. 571-574 , 2021

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

14

Prevalência ao nascimento dos défices da β-oxidação mitocon..:

Rocha, Hugo ; Castiñeiras, Daisy ; Delgado, Carmen...
Boletim Epidemiológico Observações. 2015 janeiro-março;4(11):26-29. , 2015

Link: http://hdl.handle.net/10..

15

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Ibe..:

Rocha, Hugo ; Castiñeiras, Daisy ; Delgado, Carmen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...