Ich stimme zu, dass diese Seite Cookies verwende. Weitere Informationen finden Sie unter unseren Datenschutzerklärungen .
X
Martín-Hernández, Elena
12963  Ergebnisse:
Personensuche X
?
1

Transport®NPC: open phase 3 global trial of intravenous hyd..:

Hastings, Caroline A. ; Goker-Alpan, Ozlem ; Pena, Loren...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107875 , 2024
Link: https://doi.org/10.1016/..
 
?
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

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/..
 
?
4

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/..
 
?
5

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/..
 
?
6

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/..
 
?
7

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/..
 
?
8

Characterization of a complex phenotype (fever-dependent re..:

Cotrina-Vinagre, Francisco Javier ; Rodríguez-García, María Elena ; Martín-Hernández, Elena...
Molecular Genetics and Metabolism.  133 (2021)  2 - p. 201-210 , 2021
Link: https://doi.org/10.1016/..
 
?
9

MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:

Lopes Abath Neto, Osorio ; Medne, Livija ; Donkervoort, Sandra...
Brain.  144 (2021)  9 - p. 2722-2731 , 2021
Link: https://doi.org/10.1093/..
 
?
10

A novel de novo mutation in the PURA gene associated with a..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Arranz-Canales, Elena...
Journal of Genetics.  99 (2020)  1 - p. , 2020
Link: https://doi.org/10.1007/..
 
?
11

Evolution of tyrosinemia type 1 disease in patients treated..:

Couce, María Luz ; Sánchez-Pintos, Paula ; Aldámiz-Echevarría, Luís...
Medicine.  98 (2019)  39 - p. e17303 , 2019
Link: https://doi.org/10.1097/..
 
?
12

A novel de novo MTOR gain-of-function variant in a patient ..:

Rodríguez-García, María Elena ; Cotrina-Vinagre, Francisco Javier ; Bellusci, Marcello...
European Journal of Human Genetics.  27 (2019)  9 - p. 1369-1378 , 2019
Link: https://doi.org/10.1038/..
 
?
13

Value of genetic analysis for confirming inborn errors of m..:

Navarrete, Rosa ; Leal, Fátima ; Vega, Ana I....
European Journal of Human Genetics.  27 (2019)  4 - p. 556-562 , 2019
Link: https://doi.org/10.1038/..
 
?
14

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Syna..:

Salpietro, Vincenzo ; Malintan, Nancy T. ; Llano-Rivas, Isabel...
The American Journal of Human Genetics.  104 (2019)  4 - p. 721-730 , 2019
Link: https://doi.org/10.1016/..
 
?
15

Genes and Variants Underlying Human Congenital Lactic Acido..:

Bravo-Alonso, Irene ; Navarrete, Rosa ; Vega, Ana Isabel...
Journal of Clinical Medicine.  8 (2019)  11 - p. 1811 , 2019
Link: https://doi.org/10.3390/..
 
1-15