Current Research Projects

Project Leader Project Title
Baumgartner THE MOLECULAR BASIS AND FUNCTIONAL CHARACTERIZATION OF HUMAN 3-METHYLCRTONYL-COA CARBOXYLASE DEFCIENCY
LONGITUDINAL STUDY OF UREA CYCLE DISORDERS
Baumgartner Fowler THE EFFECT OF COFACTORS AND VITAMINS ON HOMOCYSTEINE AND METHYLMALONIC ACID METABOLISM IN HEALTH AND DISEASE
Giunta INFLUENCE OF ZINC ON GENE EXPRESSION, COLLAGEN MATURATION AND PROTEIN SECRETION
Häberle UNDERSTANDING PHENOTYPIC VARIABILITY OF UREA CYCLE DISORDERS

Completed Research Projects

Project Leader Project Title
Häberle MOLECULAR GENETIC CHARACTERIZATION OF CLINICAL AND BIOCHEMICAL VARIANTS OF MAPLE SYRUP URINE DISEASE (MSUD)
ATYPICAL MAPLE SYRUP URINE DISEASE (MSUD): WHAT IS THE MOLECULAR GENETIC BASIS OF NON-CLASSICAL CLINICAL AND BIOCHEMICAL VARIANTS?

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