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NACB Blog
Inborn Errors of Metabolism: are they just for kids?
3/19/2013 3:55 PM |
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By
Michael J. Bennett Ph.D., FRCPath, DABCC, FACB
A 72 year old female was recently referred to a metabolism clinic (yes at a children’s hospital!) with a very long history of anemia and bone pain that had been monitored but not particularly investigated by numerous internists. She was subsequently found to be deficient in the enzyme glucocerobro...(
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Posted at 3/19/2013 3:55 PM | Tags:
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Is This A Straight Trait (AS) or Are We All Wet?
3/5/2013 9:32 AM |
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By
William E. Winter, MD; Lindsay Bazydlo, PhD, and Neil S. Harris, MD
Challenge: The patient is a 16 month old male. How should the results of the following hemoglobin electrophoresis be interpreted? By alkaline gel electrophoresis: 59.5% hemoglobin A0.6% hemoglobin F36.6% hemoglobin S By cation-exchange HPLC BioRad D-10 (Extended Program): hemoglobin A2 ...(
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Posted at 3/5/2013 9:32 AM | Tags:
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