E-LIB Suche - Ergebnisse für: Vilaseca, Marı́a Antonia

1

Clinical pattern, mutations and in vitro residual activity ..:

Huemer, Martina ; Mulder‐Bleile, Regina ; Burda, Patricie...
Journal of Inherited Metabolic Disease. 39 (2015) 1 - p. 115-124 , 2015

Link: https://doi.org/10.1007/..

2

Identification and functional analyses of CBS alleles in Sp..:

Cozar, Mónica ; Urreizti, Roser ; Vilarinho, Laura...
Human Mutation. 32 (2011) 7 - p. 835-842 , 2011

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

3

First manifestation of citrullinemia type I as differential..:

Häberle, Johannes ; Vilaseca, Maria Antonia ; Meli, Concetta...
European Journal of Obstetrics & Gynecology and Reproductive Biology. 149 (2010) 2 - p. 228-229 , 2010

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

4

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanis..:

Quintana, Ester ; Pineda, Mercé ; Font, Aida...
Journal of Inherited Metabolic Disease. 33 (2010) S3 - p. 315-319 , 2010

Link: https://doi.org/10.1007/..

5

Seizures Versus Dystonia in Encephalopathic Crisis of Gluta..:

Cerisola, Alfredo ; Campistol, Jaume ; Pérez-Dueñas, Belén...
Pediatric Neurology. 40 (2009) 6 - p. 426-431 , 2009

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

6

Cerebellar Hemorrhage in a Patient with Propionic Acidemia:

Velasco-Sánchez, Daniel ; Gómez-Lopez, Lilianne ; Vilaseca, María Antonia...
The Cerebellum. 8 (2009) 3 - p. 352-354 , 2009

Link: https://doi.org/10.1007/..

7

Cognitive functions and the antioxidant system in phenylket..:

Gassió, Rosa ; Artuch, Rafael ; Vilaseca, Maria Antonia...
Neuropsychology. 22 (2008) 4 - p. 426-431 , 2008

Link: https://doi.org/10.1037/..

8

Cranial ultrasound and chronological changes in molybdenum ..:

Serrano, Mercedes ; Lizarraga, Isabel ; Reiss, Jochen...
Pediatric Radiology. 37 (2007) 10 - p. 1043-1046 , 2007

Link: https://doi.org/10.1007/..

9

Creatine transporter deficiency: Prevalence among patients ..:

Arias, Angela ; Corbella, Marc ; Fons, Carmen...
Clinical Biochemistry. 40 (2007) 16-17 - p. 1328-1331 , 2007

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

10

Cognitive functions in classic phenylketonuria and mild hyp..:

Gassió, Rosa ; Artuch, Rafael ; Vilaseca, Maria Antonia...
Developmental Medicine & Child Neurology. 47 (2007) 7 - p. 443-448 , 2007

Link: https://doi.org/10.1111/..

11

A CBS haplotype and a polymorphism at the MSR gene are asso..:

Urreizti, Roser ; Asteggiano, Carla ; Vilaseca, Maria Antonia...
Clinical Biochemistry. 40 (2007) 12 - p. 864-868 , 2007

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

12

The p.T191M mutation of the CBS gene is highly prevalent am..:

Urreizti, Roser ; Asteggiano, Carla ; Bermudez, Marta...
Journal of Human Genetics. 52 (2007) 4 - p. 388-389 , 2007

Link: https://doi.org/10.1007/..

13

Functional assays testing pathogenicity of 14 cystathionine..:

Urreizti, Roser ; Asteggiano, Carla ; Cozar, Mónica...
Human Mutation. 27 (2006) 2 - p. 211-211 , 2006

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

14

Methods for the diagnosis of creatine deficiency syndromes:..:

Arias, Angela ; Ormazabal, Aida ; Moreno, Juan...
Journal of Neuroscience Methods. 156 (2006) 1-2 - p. 305-309 , 2006

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

15

The p.T191M mutation of the CBS gene is highly prevalent am..:

Urreizti, Roser ; Asteggiano, Carla ; Bermudez, Marta...
Journal of Human Genetics. 51 (2006) 4 - p. 305-313 , 2006

Link: https://doi.org/10.1007/..