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Publications by Isabelle Schmitz-Afonso
Analysis of Mucopolysaccharidosis Type VI Through Integrative Functional Metabolomics
International Journal of Molecular Sciences
Organic Chemistry
Molecular Biology
Theoretical Chemistry
Inorganic Chemistry
Computer Science Applications
Spectroscopy
Medicine
Catalysis
Physical
DYRK1A Inhibition and Cognitive Rescue in a Down Syndrome Mouse Model Are Induced by New Fluoro-Dandy Derivatives
Scientific Reports
Multidisciplinary
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Mucopolysaccharidosis VI Pathophysiology Diagnosis and Treatment
Frontiers in Bioscience - Landmark
Immunology
Molecular Biology
Biochemistry
Microbiology
Medicine
Genetics
Mucopolysaccharidosis Type 7
Mucopolysaccharidosis Type 1
Novel Plasma Biomarker of Atenolol-Induced Hyperglycemia Identified Through a Metabolomics-Genomics Integrative Approach
Metabolomics
Biochemistry
Endocrinology
Clinical Biochemistry
Metabolism
Diabetes
Overexpression ofN-acetylgalactosamine-4-sulphatase Induces a Multiple Sulphatase Deficiency in Mucopolysaccharidosis-Type-Vi Fibroblasts
Biochemical Journal
Biochemistry
Cell Biology
Molecular Biology
Monitoring Dose Response of Enzyme Replacement Therapy in Feline Mucopolysaccharidosis Type VI by Tandem Mass Spectrometry
Pediatric Research
Child Health
Pediatrics
Perinatology
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
Pediatrics
Child Health
Pediatrics
Perinatology
Integrative Analysis of Metabolomics and Transcriptomics Data: A Unified Model Framework to Identify Underlying System Pathways
PLoS ONE
Multidisciplinary
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
American Journal of Medical Genetics, Part A
Genetics