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Mucolipidosis III Gamma

Known as: MUCOLIPIDOSIS IIIC, Mucolipidosis III, Complementation Group C, Mucolipidosis III, Iranian Variant Form 
National Institutes of Health

Related topics

Related topics

14 relations
Aortic Valve InsufficiencyAortic Valve StenosisArthralgiaAutosomal recessive inheritance

Broader (1)

Mucolipidoses

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme… 
2009
2009
Comparative Pathology of Murine Mucolipidosis Types II and IIIC
UDP-GlcNAc: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase) is an α2β2γ2 hexameric enzyme… 
2003
2003
Mucolipidosis III type C: first‐trimester biochemical and molecular prenatal diagnosis
Mucolipidosis IIIC (MLIIIC) is a rare autosomal recessive lysosomal storage disease resulting from defective mannose 6‐phosphate… 
2001
2001
lndo-Iranian Vayu and Gogolean Viy: An Old hypothesis revisited
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