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Published byΣεθ Δημητρακόπουλος Modified over 5 years ago
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The Building Blocks of Homocystinuria and Homocysteinemia Management
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Homocysteine
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Hcy Metabolism Cycle
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Hyperhomocysteinemia
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cblC Disease
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Patient Case 1
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Patient Case 1 Diagnosis and Treatment
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Patient Case 1 Follow-up
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Manifestations of CblC Disease
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CblC Disease Diagnostic Testing
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CblC Disease Brain Imaging Findings
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CblC Disease Treatment
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CblC Disease Acute Management
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Long-Term Follow-Up and Surveillance
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Patient Case 2
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Patient Case 2 (cont)
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Homocystinuria Clinical Features
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Patient Case 2 Laboratory Findings
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Pyridoxine Responsiveness
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Assessing Pyridoxine Responsiveness Pyridoxine Challenge
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Patient Case 2 (cont)
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Homocystinuria Lab Studies
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Free Hcy
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Monitoring and Surveillance for CBS
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CBS Specific Monitoring
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Homocystinuria Diet and Medications
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Homocystinuria Outcomes
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Homocystinuria Brain Imaging Findings
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Special Recommendations
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Concluding Remarks
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Abbreviations
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