E-LIB Suche - Ergebnisse für: Pajares, Sonia

1

Correction to: implementation of second-tier tests in newbo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

2

BCKDK deficiency: a treatable neurodevelopmental disease am..:

Tangeraas, Trine ; Constante, Juliana R ; Backe, Paul Hoff...
Brain. 146 (2023) 7 - p. 3003-3013 , 2023

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

3

Inter-rater reliability assessment for the new-born screeni..:

García-Villoria, Judit ; Argudo-Ramírez, Ana ; Alvarez, Luisa...
Biochemia medica. 32 (2022) 3 - p. 434-440 , 2022

Link: https://doi.org/10.11613..

4

Implementation of second-tier tests in newborn screening fo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

5

Neonatal Screening for Inherited Metabolic Diseases in 2016:

Villoria, Judit Garcia ; Pajares, Sonia ; López, Rosa María..
Seminars in Pediatric Neurology. 23 (2016) 4 - p. 257-272 , 2016

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

6

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type..:

Pajares, Sonia ; Arias, Angela ; García-Villoria, Judit...
Journal of Lipid Research. 56 (2015) 10 - p. 1926-1935 , 2015

Link: https://doi.org/10.1194/..

7

Role of creatine as biomarker of mitochondrial diseases:

Pajares, Sonia ; Arias, Angela ; García-Villoria, Judit..
Molecular Genetics and Metabolism. 108 (2013) 2 - p. 119-124 , 2013

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

8

Molecular analysis of mucopolysaccharidosis IVA (Morquio A)..:

Pajares, Sonia ; Alcalde, Carlos ; Couce, MªLuz...
Molecular Genetics and Metabolism. 106 (2012) 2 - p. 196-201 , 2012

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

9

Mentoring Programme: Guiding your first steps towards scien..:

Lobo-Valbuena, Beatriz ; Galarza Barrachina, Laura ; Albillos Almaraz, Rodrigo...
Medicina Intensiva (English Edition). 47 (2023) 5 - p. 289-292 , 2023

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

10

Correction to: implementation of second-tier tests in newbo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10339513/. , 2023

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

11

Newborn Screening for SCID: Experience in Spain (Catalonia):

Argudo-Ramírez, Ana ; Martín-Nalda, Andrea ; González de Aledo-Castillo, Jose Manuel...
International Journal of Neonatal Screening. 7 (2021) 3 - p. 46 , 2021

Link: https://doi.org/10.3390/..

12

First Universal Newborn Screening Program for Severe Combin..:

Argudo-Ramírez, Ana ; Martín-Nalda, Andrea ; Marín-Soria, Jose L....
Frontiers in Immunology. 10 (2019) - p. , 2019

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

13

Correction to: implementation of second-tier tests in newbo..:

Sonia Pajares ; Jose Antonio Arranz ; Aida Ormazabal...
https://doi.org/10.1186/s13023-023-02793-4. , 2023

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

14

Implementation of second-tier tests in newborn screening fo..:

Sonia Pajares ; Jose Antonio Arranz ; Aida Ormazabal...
https://doi.org/10.1186/s13023-021-01784-7. , 2021

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

15

Implementation of second-tier tests in newborn screening fo..:

Pajares Garcia, Sonia ; Arranz Amo, José Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases;16. , 2021

Link: https://hdl.handle.net/1..