E-LIB Suche - Ergebnisse für: De Las Heras, Javier

1

Characterization of biosecurity practices among cattle tran..:

Duarte, Fernando ; Allepuz, Alberto ; Casal, Jordi...
Preventive Veterinary Medicine. 224 (2024) - p. 106138 , 2024

2

Description of clinical and genetic features of 122 patient..:

Martinez-Marin, Rafael Jenaro ; Reyes-Leiva, David ; Nascimento, Andrés...
Neuromuscular Disorders. 34 (2024) - p. 1-8 , 2024

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

3

Hypomagnesaemia with varying degrees of extrarenal symptoms..:

Bosman, Willem ; Franken, Gijs A. C. ; de las Heras, Javier...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

4

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues ..:

de Castro, María José ; Jones, Simon A ; de las Heras, Javier...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

5

Development of a metabolic decompensation event severity sc..:

Schwartz, Ethan J. ; Longo, Nicola ; Perera, Sue...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108258 , 2024

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

6

The lipopolysaccharide-TLR4 axis regulates hepatic glutamin..:

Mercado-Gómez, Maria ; Goikoetxea-Usandizaga, Naroa ; Kerbert, Annarein J.C....
Metabolism. 158 (2024) - p. 155952 , 2024

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

7

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schwahn, Bernd C. ; Berry, Gerard T. ; Santra, Saikat...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107476 , 2023

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

8

Correction: Vitamin C and folate status in hereditary fruct..:

Cano, Ainara ; Alcalde, Carlos ; Belanger-Quintana, Amaya...
European Journal of Clinical Nutrition. 77 (2023) 11 - p. 1102-1103 , 2023

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

9

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schiff, Manuel ; Schwahn, Bernd C. ; Chabrol, Brigitte...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107475 , 2023

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

10

Vitamin C and folate status in hereditary fructose intolera..:

Cano, Ainara ; Alcalde, Carlos ; Belanger-Quintana, Amaya...
European Journal of Clinical Nutrition. 76 (2022) 12 - p. 1733-1739 , 2022

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

11

Understanding gut-liver axis nitrogen metabolism in Fatty L..:

Delgado, Teresa C. ; de las Heras, Javier ; Martínez-Chantar, María L.
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

12

MMADHC premature termination codons in the pathogenesis of ..:

Torices, Leire ; de las Heras, Javier ; Arango-Lasprilla, Juan Carlos...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100710 , 2021

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

13

Urine Phenylacetylglutamine Determination in Patients with ..:

Andrade, Fernando ; Cano, Ainara ; Unceta Suarez, María...
Journal of Clinical Medicine. 10 (2021) 16 - p. 3674 , 2021

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

14

Leigh syndrome associated with TRMU gene mutations:

Sala-Coromina, Júlia ; Miguel, Lucía Dougherty-de ; de las Heras, Javier...
Molecular Genetics and Metabolism Reports. 26 (2021) - p. 100690 , 2021

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

15

Importance of Timely Treatment Initiation in Infantile-Onse..:

de las Heras, Javier ; Cano, Ainara ; Vinuesa, Ana...
Children. 8 (2021) 11 - p. 1026 , 2021

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