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Prof. Dr. Matthias R. Baumgartner - Inborn Errors of Metabolism

Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Stoffwechsel und Molekulare Pädiatrie, Abteilung für » Prof. Dr. Matthias R. Baumgartner

Current research projects

Project leader Project title
Thöny Molecular and Gene Therapy
Neurometabolic Diseases

Completed research projects

Project leader Project title
Baumgartner THE EFFECT OF COFACTORS AND VITAMINS ON HOMOCYSTEINE AND METHYLMALONIC ACID METABOLISM IN HEALTH AND DISEASE
MOLECULAR CHARACTERIZATION AND INVESTIGATION OF PATHOMECHANISMS OF METHYLMALONIC ACIDURIA: TOWARDS NOVEL THERAPIES
The European network and registry for homocystinurias and methylation defects (E-HOD)
THE MOLECULAR BASIS AND FUNCTIONAL CHARACTERIZATION OF HUMAN 3-METHYLCRTONYL-COA CARBOXYLASE DEFCIENCY
THE EFFECT OF COFACTORS AND VITAMINS ON HOMOCYSTEINE AND METHYLMALONIC ACID METABOLISM IN HEALTH AND DISEASE
LONGITUDINAL STUDY OF UREA CYCLE DISORDERS
Giunta INFLUENCE OF ZINC ON GENE EXPRESSION, COLLAGEN MATURATION AND PROTEIN SECRETION
Elucidation of the complex pathogenetic mechanism underlying the Spondylocheiro Dysplastic form of EDS (SCD-EDS)
Molecular heterogeneity of the Brittle Cornea Syndrome (BCS)
Genetic Variability of the Kyphoscoliotic Type of EDS (EDS VI)
Investigation on the Genetic Variability of Osteogenesis Imperfecta (OI) and on the Potential Diagnostic Role of Urinary Excretion Pattern of Lysyl-pyridinolines to Hydroxylysyl-pyridinolines in Non Classical OI
Häberle MOLECULAR PATHOLOGY OF GLUTAMINE SYNTHETASE DEFICIENCY
MOLECULAR GENETIC CHARACTERIZATION OF CLINICAL AND BIOCHEMICAL VARIANTS OF MSUD
MOLECULAR GENETIC CHARACTERIZATION OF CLINICAL AND BIOCHEMICAL VARIANTS OF MSUD
UNDERSTANDING PHENOTYPIC VARIABILITY OF UREA CYCLE DISORDERS
MOLECULAR GENETIC CHARACTERIZATION OF CLINICAL AND BIOCHEMICAL VARIANTS OF MSUD
MOLECULAR GENETIC CHARACTERIZATION OF CLINICAL AND BIOCHEMICAL VARIANTS OF MSUD
ATYPICAL MAPLE SYRUP URINE DISEASE (MSUD): WHAT IS THE MOLECULAR GENETIC BASIS OF NON-CLASSICAL CLINICAL AND BIOCHEMICAL VARIANTS?
Häberle Diez-Fernandez UNDERSTANDING PHENOTYPIC VARIABILITY OF UREA CYCLE DISORDERS
Huemer Clinical course, treatment, biochemical and genetic studies in the Methylenetetrahydrofolate reductase (MTHFR), Cobalamin C (cblC), cobalamin E (CblE) and Cobalamin G (CblG) defect
Health-related Quality of Life and Psychological Adjustment in Children with Intoxication-type Inborn Errors of Metabolism


Last update 03.03.2016