Browse result page of RareLSD

The total number entries retrieved from this search are 16
Disease_IDD_1070DisorderNeuronal ceroid lipofuscinoses Atypical, infantileCategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN6Locationna
Disease_IDD_1071DisorderType 1 Santavuori–Haltia disease / infantile NCL CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)3.0-9.3 Mannose-6-PhosphatenaGenePPT1Locationcat enz
Disease_IDD_1072DisorderType 2 Jansky–Bielschowsky disease / late infantile NCL CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)4.3-22.5 Mannose-6-PhosphateyesGeneTPP1Locationna
Disease_IDD_1073DisorderType 3 Batten–Spielmeyer–Vogt disease / juvenile NCL CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphateyesGeneCLN3LocationTMP
Disease_IDD_1074DisorderType 4 Kufs disease / adult NCL CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN6Locationna
Disease_IDD_1075DisorderType 5 Finnish Variant / late infantile CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN5Locationcat enz
Disease_IDD_1076DisorderType 6 Late infantile variant CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN6Locationna
Disease_IDD_1077DisorderType 7 CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneMFSD8 Locationtp
Disease_IDD_1078DisorderType 8 Northern epilepsy CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN8Locationna
Disease_IDD_1079DisorderType 8 Turkish late infantile CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN8Locationna
Disease_IDD_1080DisorderType 9 German/Serbian late infantile (unknown)CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCLN9Locationna
Disease_IDD_1081DisorderType 10 Congenital cathepsin D deficiency CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphateyesGeneCTSDLocationcat enz
Disease_IDD_1082DisorderType 11 Adult variantCategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneGRNLocationna
Disease_IDD_1083DisorderType 12 Kufor–Rakeb syndromeCategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneATP13A2Locationna
Disease_IDD_1084DisorderType 13 Adult Kuf typeCategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneCTSFLocationna
Disease_IDD_1085DisorderType 14 Progressive myoclonus epilepsy 3CategoryLipofucinosisENZYME LEVEL IN PATIENT (nm/h/mg protein)nr Mannose-6-PhosphatenaGeneKCTD7Locationna