X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (7325) 7325
Book Chapter (159) 159
Dissertation (75) 75
Book / eBook (31) 31
Web Resource (25) 25
Magazine Article (17) 17
Conference Proceeding (10) 10
Government Document (6) 6
Newspaper Article (4) 4
Publication (4) 4
Streaming Video (4) 4
Book Review (2) 2
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (4416) 4416
animals (2559) 2559
lysosomal storage disease (1571) 1571
male (1521) 1521
lysosomal storage diseases (1489) 1489
female (1423) 1423
genetics & heredity (1406) 1406
mice (1336) 1336
biochemistry & molecular biology (1235) 1235
enzymes (1156) 1156
enzyme replacement therapy (1142) 1142
mutation (1095) 1095
medicine, research & experimental (989) 989
lysosomal storage disorders (970) 970
neurosciences (801) 801
disease (765) 765
adult (734) 734
disease models, animal (722) 722
cell biology (704) 704
child (666) 666
lysosomal storage (658) 658
lysosomes - metabolism (657) 657
analysis (605) 605
mucopolysaccharidosis (598) 598
proteins (574) 574
lysosomal storage disorder (562) 562
pediatrics (549) 549
mouse model (541) 541
phenotype (538) 538
child, preschool (537) 537
autophagy (531) 531
diagnosis (530) 530
adolescent (525) 525
lysosomes (508) 508
pathology (496) 496
infant (494) 494
lysosomal storage diseases - genetics (475) 475
gene therapy (465) 465
research (456) 456
clinical neurology (450) 450
endocrinology & metabolism (436) 436
gene (433) 433
cells, cultured (427) 427
brain (424) 424
neurodegeneration (420) 420
mutations (400) 400
expression (399) 399
fabry disease (398) 398
infant, newborn (398) 398
mice, knockout (393) 393
gaucher disease (385) 385
genetics (382) 382
middle aged (376) 376
metabolism (362) 362
lysosomes - enzymology (361) 361
lysosomal storage diseases - diagnosis (354) 354
deficiency (352) 352
medicine (352) 352
health aspects (346) 346
lysosomal storage diseases - pathology (344) 344
central-nervous-system (342) 342
fibroblasts (340) 340
lysosomal storage diseases - therapy (340) 340
lipids (336) 336
lysosomal storage diseases - metabolism (331) 331
genetic aspects (329) 329
biotechnology & applied microbiology (326) 326
cells (311) 311
identification (305) 305
physiological aspects (301) 301
bone-marrow-transplantation (298) 298
mice, inbred c57bl (297) 297
gaucher-disease (295) 295
brain - pathology (293) 293
neurons (288) 288
pharmacology & pharmacy (287) 287
molecular sequence data (285) 285
children (281) 281
protein (280) 280
therapy (279) 279
biology (277) 277
brain - metabolism (277) 277
care and treatment (273) 273
glycosaminoglycans (272) 272
lysosome (271) 271
multidisciplinary sciences (268) 268
medicine & public health (267) 267
transplantation (265) 265
cholesterol (262) 262
gene expression (260) 260
genetic therapy (257) 257
neurology (255) 255
cell line (248) 248
enzyme-replacement therapy (240) 240
genetic therapy - methods (234) 234
lysosomal storage diseases - enzymology (231) 231
patients (231) 231
molecular biology (221) 221
neuronal ceroid-lipofuscinosis (221) 221
disorders (217) 217
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (7236) 7236
German (105) 105
Japanese (92) 92
French (88) 88
Spanish (75) 75
Portuguese (34) 34
Russian (26) 26
Polish (14) 14
Czech (13) 13
Chinese (9) 9
Dutch (9) 9
Italian (5) 5
Hungarian (4) 4
Korean (4) 4
Turkish (3) 3
Swedish (2) 2
Croatian (1) 1
Danish (1) 1
Finnish (1) 1
Slovak (1) 1
Ukrainian (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Autophagy, ISSN 1554-8635, 2014, Volume 6, Issue 8, pp. 1078 - 1089
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 2016, Volume 118, Issue 4, pp. 304 - 309
There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an optimal clinical outcome when started early in life... 
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | CARDS | DRIED BLOOD SPOTS | RETROSPECTIVE DIAGNOSES | ENZYMES | FABRY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FILTER-PAPER | ENZYMATIC DIAGNOSIS | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Niemann-Pick-A | B disease
Journal Article
by Robak, Laurie A and Jansen, Iris E and van Rooij, Jeroen and Uitterlinden, André G and Kraaij, Robert and Jankovic, Joseph and Heutink, Peter and Shulman, Joshua M and Nalls, Mike A and Plagnol, Vincent and Hernandez, Dena G and Sharma, Manu and Sheerin, Una-Marie and Saad, Mohamad and Simón-Sánchez, Javier and Schulte, Claudia and Lesage, Suzanne and Sveinbjörnsdóttir, Sigurlaug and Arepalli, Sampath and Barker, Roger and Ben, Yoav and Berendse, Henk W and Berg, Daniela and Bhatia, Kailash and de Bie, Rob M A and Biffi, Alessandro and Bloem, Bas and Bochdanovits, Zoltan and Bonin, Michael and Bras, Jose M and Brockmann, Kathrin and Brooks, Janet and Burn, David J and Majounie, Elisa and Charlesworth, Gavin and Lungu, Codrin and Chen, Honglei and Chinnery, Patrick F and Chong, Sean and Clarke, Carl E and Cookson, Mark R and Mark Cooper, J and Corvol, Jean Christophe and Counsell, Carl and Damier, Philippe and Dartigues, Jean-François and Deloukas, Panos and Deuschl, Günther and Dexter, David T and van Dijk, Karin D and Dillman, Allissa and Durif, Frank and Dürr, Alexandra and Edkins, Sarah and Evans, Jonathan R and Foltynie, Thomas and Dong, Jing and Gardner, Michelle and Raphael Gibbs, J and Goate, Alison and Gray, Emma and Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J and Hofman, Albert and Hollenbeck, Albert and Holton, Janice and Hu, Michele and Huang, Xuemei and Wurster, Isabel and Mätzler, Walter and Hudson, Gavin and Hunt, Sarah E and Huttenlocher, Johanna and Illig, Thomas and Jónsson, Pálmi V and Lambert, Jean-Charles and Langford, Cordelia and Lees, Andrew and Lichtner, Peter and Limousin, Patricia and Lopez, Grisel and Lorenz, Delia and McNeill, Alisdair and Moorby, Catriona and Moore, Matthew and Morris, Huw R and Morrison, Karen E and Escott-Price, Valentina and Mudanohwo, Ese and O’Sullivan, Sean S and Pearson, Justin and Perlmutter, Joel S and Pétursson, Hjörvar and Pollak, Pierre and Post, Bart and Potter, Simon and Ravina, Bernard and Revesz, Tamas and Riess, Olaf and ... and International Parkinson’s Disease Genomics Consortium (IPDGC) and IPDGC
Brain (London, England : 1878), ISSN 1460-2156, 2017, Volume 140, Issue 12, pp. 3191 - 3203
Journal Article
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2013, Volume 58, Issue 6, pp. 1230 - 1243
Journal Article
Journal Article