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Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

scientific article published on 09 July 2019

Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics

scientific article published on 18 May 2020

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

artículo científico publicado en 2019

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma

artículo científico publicado en 2019

Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid

artículo científico publicado en 2019

Expanding the clinical phenotype of COG6 deficiency

artículo científico publicado en 2014

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders

scientific article published on 05 December 2019

Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.

artículo científico

Key features and clinical variability of COG6-CDG.

artículo científico publicado en 2015

Participatory methods in pediatric participatory research: a systematic review

artículo científico

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

artículo científico publicado en 2019

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

artículo científico publicado en 2019

Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

artículo científico publicado en 2020

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