Publication

Z. Wang, et al, A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease. Mol Genet Metab. 2013 Aug 29. pii: S1096-7192(13)00300-4. doi: 10.1016/j.ymgme.2013.08.010. [Epub ahead of print]: 2013
PubMed ID: 24044919

Records Return:  (12) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescriptionCollection_Type_id
GM14510Female31 YR3160probandGLYCOGEN STORAGE DISEASE IIGM
GM09282Female10 MO2135probandGLYCOGEN STORAGE DISEASE IIGM
GM14603Male7 MO1777probandGLYCOGEN STORAGE DISEASE IIGM
GM14550Female7 MO1749probandGLYCOGEN STORAGE DISEASE IIGM
GM14526Female17 YR1741probandGLYCOGEN STORAGE DISEASE IIGM
GM14045Male8 YR1672probandGLYCOGEN STORAGE DISEASE IIGM
GM14039Male19 YR1671probandGLYCOGEN STORAGE DISEASE IIGM
GM13963Female5 MO probandGLYCOGEN STORAGE DISEASE IIGM
GM17323Female40 YR  HUMAN VARIATION PANEL - ITALIANGM
GM00248Male5 MO probandGLYCOGEN STORAGE DISEASE IIGM
GM13291Male25 YR probandGLYCOGEN STORAGE DISEASE IIGM
GM14407Male20 MO probandGLYCOGEN STORAGE DISEASE IIGM