E-LIB Suche - Ergebnisse für: Briones, P.

1

Difficulties in the diagnosis of galactokinase deficiency. ..:

Fernández, E. ; Rausell, D. ; Moliner, S....
Clinica Chimica Acta. 493 (2019) - p. S449-S450 , 2019

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

2

Myopathy in hereditary leiomyomatosis and renal cell cancer..:

España, A. ; Ornilla, E. ; Zarate, R...
British Journal of Dermatology. 172 (2015) 5 - p. 1442-1445 , 2015

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

3

PP03.2 – 2683: Next generation sequencing allows the identi..:

Escobar, J.D. Ortigoza ; Oyarzabal, A. ; Montero, R....
European Journal of Paediatric Neurology. 19 (2015) - p. S36-S37 , 2015

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

4

Analysis of coenzyme Q10 in lymphocytes by HPLC–MS/MS:

Arias, A. ; García-Villoria, J. ; Rojo, A....
Journal of Chromatography B. 908 (2012) - p. 23-26 , 2012

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

5

Mild Clinical and Biochemical Phenotype in Two Patients wit..:

Casado, M. ; O'Callaghan, M. M. ; Montero, R....
The Cerebellum. 11 (2011) 2 - p. 557-563 , 2011

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

6

Screening for nuclear genetic defects in the ATP synthase-a..:

Tort, F ; del Toro, M ; Lissens, W...
Clinical Genetics. 80 (2011) 3 - p. 297-300 , 2011

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

7

Mutational study in the PDHA1 gene of 40 patients suspected..:

Quintana, E ; Gort, L ; Busquets, C...
Clinical Genetics. 77 (2010) 5 - p. 474-482 , 2010

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

8

PDH E1β deficiency with novel mutations in two patients wit..:

Quintana, E. ; Mayr, J. A. ; García Silva, M. T....
Journal of Inherited Metabolic Disease. 32 (2009) S1 - p. 339-343 , 2009

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

9

Long-term evolution of eight Spanish patients with CDG type..:

Pérez-Dueñas, B. ; García-Cazorla, A. ; Pineda, M....
European Journal of Paediatric Neurology. 13 (2009) 5 - p. 444-451 , 2009

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

10

Secondary disorders of glycosylation in inborn errors of fr..:

Quintana, E. ; Sturiale, L. ; Montero, R....
Journal of Inherited Metabolic Disease. 32 (2009) S1 - p. 273-278 , 2009

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

11

Clinical and biochemical spectrum of mitochondrial complex ..:

Ramos‐Arroyo, MA ; Hualde, J ; Ayechu, A...
Clinical Genetics. 75 (2009) 6 - p. 585-587 , 2009

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

12

O6-3 Coenzyme Q10 responsive ataxia:

O'Callaghan, M.M. ; Montero, R. ; Aracil, A....
European Journal of Paediatric Neurology. 13 (2009) - p. S14 , 2009

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

13

MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFI..:

Garcia-Cazorla, A. ; Quadros, E. V. ; Nascimento, A....
Neurology. 70 (2008) 16 - p. 1360-1362 , 2008

Link: https://doi.org/10.1212/..

14

Secondary alteration of the transferrin isoelectric focusin..:

Quintana, E. ; Gala, S. ; García‐Cazorla, A....
Journal of Inherited Metabolic Disease. 30 (2007) 2 - p. 267-267 , 2007

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

15

Mutational spectrum of classical galactosaemia in Spain and..:

Gort, L. ; Boleda, M. D. ; Tyfield, L....
Journal of Inherited Metabolic Disease. 29 (2006) 6 - p. 739-742 , 2006

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