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NBME 18 Answers

nbme18/Block 4/Question#42 (reveal difficulty score)
4 month old boy, abnormal glycogen storage
alpha-1,4-Glucosidase ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–

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submitted by โˆ—sympathetikey(1600)
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โ€ข Pompe Disease (Type 2)
    โ—‹ Lack of - Lysosomal Debranching Enzyme (ฮฑ-1,6 Glucosidase)
    โ—‹ Buildup of 1,6 linkages
    โ—‹ Presentation:
        ยง 1. Cardiomegaly
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sympathetikey  *1,4 glucosidase +4
handsome  what is the meaning/significance of 16.8difficult score? +

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submitted by โˆ—shelbinator94(1)
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Why couldn't this be branching enzyme impairment? They both cause cardiac symptoms (according to Amboss at least)

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