Artículos científicos

Exploring genotype–phenotype correlations in glutaric aciduria type 1 2023

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13 marzo, 2025 / 0 Comments

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data 2023

13 marzo, 2025 / 0 Comments

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism 2020

13 marzo, 2025 / 0 Comments

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations 2023

13 marzo, 2025 / 0 Comments

Necesidades sanitarias y socioeducativas de ninos ˜ con enfermedades raras de tipo metabólico y sus familias: estudio cualitativo en un hospital de tercer nivel 2019

13 marzo, 2025 / 0 Comments

Rescue of glutaric aciduria type I in mice by liver-directed therapies 2023

13 marzo, 2025 / 0 Comments

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience 2022

13 marzo, 2025 / 0 Comments

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I 2021

13 marzo, 2025 / 0 Comments

Glutaryl-Coenzyme A dehydrogenase deficiency 2003

13 marzo, 2025 / 0 Comments

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1 2023

25 enero, 2025 / 0 Comments