Browse result page of RareLSD

The total number entries retrieved from this search are 9
Disease_IDD_1061DisorderGSD II / GSD 2 (Pompe's disease )CategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)0.0-0.19 Mannose-6-PhosphateyesGeneGAALocationcat enz
Disease_IDD_1062DisorderType IIb Danon diseaseCategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneLAMP2Locationprotein import (other)
Disease_IDD_1063DisorderType III (Amylo-1,6-Glucosidase deficiency)-Forbe’s or Cori’s diseaseCategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneAGLLocationna
Disease_IDD_1064DisorderType IV (Branching Enzyme deficiency)-Andersons disease of AmylopectinosisCategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneGBELocationna
Disease_IDD_1065DisorderType V (Muscle Phosphorylase deficiency)-McArdle’s diseaseCategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGenePYGM Locationna
Disease_IDD_1066DisorderTYPE VI (LIVER PHOSPHORYLASE DEFICIENCY)- HERS’ DISEASECategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGenePYGLLocationna
Disease_IDD_1067DisorderType VII (Muscle and erythrocyte phosphofructokinase deficiency)-Taruis’ diseaseCategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGenePFKMLocationna
Disease_IDD_1068DisorderType IX (Liver and muscle phosphorylase kinase deficiency)CategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGenePHKA2/PHKB/PHKG2/PHKA1Locationna
Disease_IDD_1069DisorderType X (cAMP dependent protein kinase A deficiency) CategoryGlycogenosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneENO3Locationna