19 results on '"Freehauf, Cynthia"'
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2. Introduction to Genetics
3. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
4. Role of Electron Microscopy in the Diagnosis of Mitochondrial Cytopathies
5. Network phenylketonuria conference: an effective tool for facilitating adherence to diet therapy in individuals with phenylketonuria
6. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
7. Mudd's disease (MAT I/III deficiency) : a survey of data for MAT1A homozygotes and compound heterozygotes
8. Methionine Adenosyltransferase I/III Deficiency: Novel Mutations and Clinical Variations
9. Low bone mineral density is a common finding in patients with homocystinuria
10. Impact of geographic access to care on compliance and metabolic control in phenylketonuria
11. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria
12. Evaluation of the Efficacy and Effectiveness of Metabolic University
13. Network Phenylketonuria Conference
14. Acute nutrition management in the prevention of metabolic illness: A practical approach with glucose polymers
15. Management of a patient with holocarboxylase synthetase deficiency
16. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene
17. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
18. Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations
19. Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
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