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Expert Reviews in Molecular Medicine, ISSN 1462-3994, 01/2008, Volume 10, Issue 1, pp. 1 - 18
Journal Article
ACM SIGIR Forum, ISSN 0163-5840, 05/2012, Volume 46, Issue 1, p. 2
During a three-day workshop in February 2012, 45 Information Retrieval researchers met to discuss long-range challenges and opportunities within the field. The... 
Language Technology (Computational Linguistics) | Data- och informationsvetenskap | Språkteknologi (språkvetenskaplig databehandling) | Naturvetenskap | Natural Sciences | Computer and Information Sciences
Journal Article
Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 19 - 29
Journal Article
PLoS ONE, ISSN 1932-6203, 2015, Volume 10, Issue 5, p. e0124987
This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an... 
GALACTOSIDASE-A-GENE | ADOLESCENTS | MULTIDISCIPLINARY SCIENCES | HUMAN ALPHA-GALACTOSIDASE | RENAL-FUNCTION | ENDOTHELIAL FENESTRATION | MUTATIONS | ENZYME REPLACEMENT THERAPY | AGALSIDASE-BETA THERAPY | NEPHROPATHY | CHILDREN | Demography | Kidney - pathology | Humans | Child, Preschool | Iohexol | Trihexosylceramides - blood | Male | Fabry Disease - blood | Sphingolipids - blood | Glycolipids - blood | Fabry Disease - drug therapy | Child | Kidney - physiopathology | Trihexosylceramides - genetics | Glomerular Filtration Rate | Genotype | Fabry Disease - urine | Mutation - genetics | Kidney - ultrastructure | Skin - blood supply | Biopsy | Trihexosylceramides - urine | Adolescent | Brain - pathology | Fabry Disease - physiopathology | Quality of Life | Endothelium, Vascular - pathology | Clinical trials | Lipids | Chemical properties | Contrast media | Globotriaosylceramide | Pediatrics | Plasma | Renal function | Nuclear magnetic resonance--NMR | Galactosidase | Smooth muscle | Males | Tissues | Accumulation | Ethics | Randomization | Distal tubules | Mesangial cells | Teenagers | Children | Lesions | Drug dosages | Urine | Creatinine | Enzymes | Damage assessment | Kidneys | Medical treatment | Muscles | Tubules | Electron microscopy | Patients | Endothelial cells | Fabry's disease | Quality of life | Children & youth | Glomerular filtration rate | Pathology | Hospitals | Product development | Skin | Collecting duct | Kidney transplantation | Nuclear magnetic resonance | NMR
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 229 - 240
Journal Article
Human Performance, ISSN 0895-9285, 08/2017, Volume 30, Issue 4, pp. 212 - 230
Because organizational citizenship behavior (OCB) performance contributes to overall performance ratings and failure to perform expected behaviors detracts... 
MECHANICAL TURK | WOMEN SCALE | PROSOCIAL BEHAVIOR | DARK SIDES | STEREOTYPES | WORK-FAMILY CONFLICT | GOOD SOLDIER | PSYCHOLOGY, APPLIED | CONSEQUENCES | COMPONENTS | SEX-DIFFERENCES | Human factors research | Gender differences | Ideology
Journal Article
Best Practice & Research: Clinical Endocrinology & Metabolism, ISSN 1521-690X, 2014, Volume 29, Issue 2, pp. 219 - 235
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2012, Volume 7, Issue 1, pp. 22 - 22
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2010, Volume 107, Issue 24, pp. 10842 - 10847
Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal... 
Enzymes | Receptors | Gaucher disease | Active sites | Enzyme replacement therapy | Imaging | Liver | Mice | Fluorides | Positron emission tomography | Lysosomal Storage diseases | PET Imaging | Mechanism-based enzyme inhibition | GLYCOSIDES | MUTAGENESIS | ACTIVE-SITE NUCLEOPHILE | MECHANISM | MULTIDISCIPLINARY SCIENCES | AGROBACTERIUM BETA-GLUCOSIDASE | IDENTIFICATION | GAUCHER-DISEASE | HUMAN GLUCOCEREBROSIDASE | mechanism-based enzyme inhibition | KINETIC-ANALYSIS | ACCUMULATION | Mannose-Binding Lectins - metabolism | Recombinant Proteins - therapeutic use | Humans | Half-Life | Recombinant Proteins - pharmacokinetics | Rhizobium - enzymology | Enzymes - pharmacokinetics | Receptors, Cell Surface - antagonists & inhibitors | Tissue Distribution | Lectins, C-Type - metabolism | beta-Glucosidase - genetics | beta-Glucosidase - metabolism | Enzymes - therapeutic use | Radiopharmaceuticals | Gaucher Disease - drug therapy | Gaucher Disease - enzymology | Catalytic Domain | Mutagenesis, Site-Directed | Mice, Inbred C57BL | Receptors, Cell Surface - metabolism | Recombinant Proteins - genetics | Positron-Emission Tomography - methods | Mannose-Binding Lectins - antagonists & inhibitors | Rhizobium - genetics | Animals | Glucosylceramidase - therapeutic use | Gaucher Disease - diagnostic imaging | Fluorine Radioisotopes | Glucosylceramidase - pharmacokinetics | Lectins, C-Type - antagonists & inhibitors | Amino Acid Substitution | Care and treatment | PET imaging | Research | Diagnosis | Health aspects | Biopharmaceutics | Methods | Gaucher's disease | Genetics | Biochemistry | Clinical medicine | Cells | Biological Sciences
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. 217 - 217
Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~ 1 in 200,000 to... 
Enzyme Replacement Therapy | Humans | Chondroitinsulfatases - therapeutic use | Clinical Protocols | Quality of Life | Mucopolysaccharidosis IV - genetics | Mucopolysaccharidosis IV - drug therapy | Precision Medicine | Physiological aspects | Keratin | Enzymes | Sulfates | Analysis
Journal Article