E-LIB Suche - Ergebnisse für: Quijada Fraile, Pilar

1

Diagnosis of inborn errors of metabolism within the expande..:

Martín‐Rivada, Álvaro ; Palomino Pérez, Laura ; Ruiz‐Sala, Pedro...
JIMD Reports. 63 (2022) 2 - p. 146-161 , 2022

2

Effectiveness and safety of the treatment of lysosomal depo..:

Canales-Siguero, Dolores ; García-Muñoz, Carmen ; Quijada Fraile, Pilar...
Medicina Clínica (English Edition). 159 (2022) 8 - p. 380-384 , 2022

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

3

Expanding the genetic and phenotypic spectrum of Baker–Gord..:

Cotrina-Vinagre, Francisco Javier ; Rodríguez-García, María Elena ; Del Pozo-Filíu, Lucía..
Journal of Genetics. 103 (2024) 2 - p. , 2024

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

4

Expanding the genetic and phenotypic spectrum of congenital..:

Cotrina-Vinagre, Francisco Javier ; Rodríguez-García, María Elena ; del Pozo-Filíu, Lucía...
Journal of Human Genetics. 69 (2024) 5 - p. 187-196 , 2024

Link: https://doi.org/10.1038/..

5

A novel de novo variant in CASK causes a severe neurodevelo..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 543-550 , 2023

Link: https://doi.org/10.1038/..

6

Correction: A novel de novo variant in CASK causes a severe..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Olson, Alexandra N....
Journal of Human Genetics. 68 (2023) 8 - p. 577-577 , 2023

Link: https://doi.org/10.1038/..

7

Identification of Clinical Variants beyond the Exome in Inb..:

Soriano-Sexto, Alejandro ; Gallego, Diana ; Leal, Fátima...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 12850 , 2022

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

8

Recommendations for the Diagnosis and Therapeutic Managemen..:

Bélanger-Quintana, Amaya ; Arrieta Blanco, Francisco ; Barrio-Carreras, Delia...
Nutrients. 14 (2022) 13 - p. 2755 , 2022

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

9

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia...
Journal of Clinical Medicine. 11 (2022) 17 - p. 5045 , 2022

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

10

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and..:

Alcaide, Patricia ; Ferrer-López, Isaac ; Gutierrez, Leticia...
Journal of Clinical Medicine. 11 (2022) 10 - p. 2933 , 2022

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

11

Switching to Glycerol Phenylbutyrate in 48 Patients with Ur..:

Martín Hernández, Elena ; Quijada Fraile, Pilar ; Correcher, Patricia...
https://www.mdpi.com/2077-0383/11/17/5045. , 2022

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

12

Clinical features and health-related quality of life in adu..:

Quijada-Fraile, Pilar ; Arranz Canales, Elena ; Martín-Hernández, Elena...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

13

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A.M. ; Richer, Julie...
The American Journal of Human Genetics. 108 (2021) 11 - p. 2195-2204 , 2021

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

14

Bi-allelic variants in the mitochondrial RNase P subunit PR..:

Hochberg, Irit ; Demain, Leigh A. M ; Richer, Julie...
Reproducció del document publicat a: https://doi.org/10.1016/j.ajhg.2021.10.002. , 2021

Link: http://hdl.handle.net/24..

15

Chemotherapy in a Breast Cancer Patient Heterozygous Carrie..:

Palka-Kotlowska, Magda ; Cabezón-Gutiérrez, Luis ; Custodio-Cabello, Sara..
Cureus. , 2020

Link: https://doi.org/10.7759/..