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Documents Enzymopathy – Inherited Metabolic Disorders RNDr. Hana Zoubková, PhD Energy -228.

Slide 1 Enzymopathy – Inherited Metabolic Disorders RNDr. Hana Zoubková, PhD Energy -228 Slide 2 Mutation in nuclear DNA Mutation in mitochondrial DNA Dysfunctional enzyme,…

Documents Approach to IEM AA - PKU

Approach to IEM AA - PKU Annette Feigenbaum Division of Clinical and Metabolic Genetics, HSC 2002 Enzymes Protein catalysts that rapidly mediate the chemical reactions in…

Documents Endocrine System

Endocrine System Endocrine System PART II 1 DISORDERS OF THE GONADS NOONAN SYNDROME SHORT STATURE, webbing of the neck, pectus carinatum/excavatum, cubitus valgus, R sided…