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Molecular Genetics and Metabolism
|
April 18, 2015
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype
Luis Aldámiz-Echevarría, María A Bueno, María L Couce, et al.
Plos Pathogens
|
February 1, 2018
Recombinant PrPSc shares structural features with brain-derived PrPSc: Insights from limited proteolysis
Alejandro M Sevillano, Natalia Fernández-Borges, Neelam Younas, et al.
Acta Neuropathologica
|
November 3, 2017
Cofactors influence the biological properties of infectious recombinant prions
Natalia Fernández-Borges, Michele A Di Bari, Hasier Eraña, et al.
Human Mutation
|
April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Diana Gallego, Fátima Leal, Alejandra Gámez, et al.
Journal of Human Genetics
|
April 29, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
Luis Aldámiz-Echevarría, Marta Llarena, María A Bueno, et al.
Plos Pathogens
|
November 19, 2019
Regulation of macrophage activity by surface receptors contained within Borrelia burgdorferi-enriched phagosomal fractions
Ana Carreras-González, Diego Barriales, Ainhoa Palacios, et al.
Nutrients
|
January 8, 2025
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Javier de Las Heras, Carolina Almohalla, Javier Blasco-Alonso, et al.
Orphanet Journal of Rare Diseases
|
April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
August 9, 2019
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Fernando Andrade, Isidro Vitoria, Elena Martín Hernández, et al.
Page
of 17
Search research articles
Search
Showing results (151-160 of 163) with videos related to
Sort By:
Page
of 17
Molecular Genetics and Metabolism
|
April 18, 2015
6R-tetrahydrobiopterin treated PKU patients below 4 years of age: Physical outcomes, nutrition and genotype
Luis Aldámiz-Echevarría, María A Bueno, María L Couce, et al.
Plos Pathogens
|
February 1, 2018
Recombinant PrPSc shares structural features with brain-derived PrPSc: Insights from limited proteolysis
Alejandro M Sevillano, Natalia Fernández-Borges, Neelam Younas, et al.
Acta Neuropathologica
|
November 3, 2017
Cofactors influence the biological properties of infectious recombinant prions
Natalia Fernández-Borges, Michele A Di Bari, Hasier Eraña, et al.
Human Mutation
|
April 26, 2020
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia
Diana Gallego, Fátima Leal, Alejandra Gámez, et al.
Journal of Human Genetics
|
April 29, 2016
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria
Luis Aldámiz-Echevarría, Marta Llarena, María A Bueno, et al.
Plos Pathogens
|
November 19, 2019
Regulation of macrophage activity by surface receptors contained within Borrelia burgdorferi-enriched phagosomal fractions
Ana Carreras-González, Diego Barriales, Ainhoa Palacios, et al.
Nutrients
|
January 8, 2025
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Javier de Las Heras, Carolina Almohalla, Javier Blasco-Alonso, et al.
Orphanet Journal of Rare Diseases
|
April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
Vassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 7, 2020
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency
Willemijn J van Rijt, Emmalie A Jager, Derk P Allersma, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
August 9, 2019
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Fernando Andrade, Isidro Vitoria, Elena Martín Hernández, et al.
Page
of 17