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2010, ISBN 9789814271318, xviii, 160
Book
Expert review of clinical pharmacology, 12/2018, Volume 11, Issue 12, p. 1183
Gaucher disease (GD) is an autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme glucocerebrosidase (b-glucosidase), associated... 
Enzyme Replacement Therapy - methods | Gaucher Disease - genetics | Glucosylceramidase - deficiency | Humans | Quality of Life | Gaucher Disease - physiopathology | Glucosylceramidase - administration & dosage | Child | Gaucher Disease - drug therapy
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2015, Volume 167, Issue 10, pp. 2272 - 2281
The primary treatment outcomes of a phase 2, randomized, double‐blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase... 
muscle strength | mucopolysaccharidosis IV | physical endurance | enzyme replacement therapy | respiratory function tests | safety | cardiopulmonary exercise test | GALNS protein | human [supplementary concept] | Muscle strength | Enzyme replacement therapy | Human [supplementary concept] | Cardiopulmonary exercise test | Safety | Physical endurance | Mucopolysaccharidosis IV | Respiratory function tests | EFFICACY | 6-MINUTE WALK TEST | GUIDELINES | BMN 110 | OPEN-LABEL | CHILDREN | ADOLESCENTS | DISEASE | GENETICS & HEREDITY | MUCOPOLYSACCHARIDOSIS TYPE IVA | Recombinant Proteins - therapeutic use | Humans | Chondroitinsulfatases - therapeutic use | Male | Mucopolysaccharidosis IV - genetics | Chondroitinsulfatases - metabolism | Exercise Test | Keratan Sulfate - urine | Mucopolysaccharidosis IV - pathology | Patient Safety | Adult | Female | Child | Heart Function Tests | Muscle Strength | Chondroitinsulfatases - genetics | Enzyme Replacement Therapy | Double-Blind Method | Drug Administration Schedule | Treatment Outcome | Mucopolysaccharidosis IV - drug therapy | Walking | Pilot Projects | Adolescent | Respiratory Function Tests | Mucopolysaccharidosis IV - enzymology | Medical research | Safety and security measures | Analysis | Medical genetics | Clinical trials | Physiological aspects | Medicine, Experimental | Sulfates | Consulting services | Physiology | Pain | Urine | Respiratory function | Cardiac muscle | Keratan sulfate | Muscular strength | Patients
Journal Article
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 06/2019, Volume 104, Issue Suppl 3, p. A121
BackgroundCerebral creatine deficiency is caused by rare inherited disorders of either creatine biosynthesis (i.e. guanidinoacetate methyltransferase (GAMT)... 
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 02/2018, Volume 13, Issue 1, pp. 36 - 10
Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several... 
Splenomegaly | Imiglucerase | Gaucher disease | Anaemia | Hepatomegaly | Enzyme replacement therapy | Paediatrics | Taliglucerase alfa | MEDICINE, RESEARCH & EXPERIMENTAL | RECOMBINANT GLUCOCEREBROSIDASE | FEATURES | TRIAL | TREATMENT-NAIVE | PEDIATRIC-PATIENTS | GENETICS & HEREDITY | Care and treatment | Gaucher's disease
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S144 - S144
Journal Article
Diseases (Basel, Switzerland), ISSN 2079-9721, 02/2017, Volume 5, Issue 1, p. 8
Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of... 
T cell receptors | gammopathy | lysosome | multiple myeloma
Journal Article
Lancet, The, ISSN 0140-6736, 2015, Volume 385, Issue 9985, pp. 2328 - 2330
Journal Article
Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 229 - 240
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, p. e0125204
Objective Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also... 
BETA-GLUCOSIDASE-2 | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | ALPHA-SYNUCLEIN | PATHOLOGY | IDENTIFICATION | GLUCOCEREBROSIDASE MUTATIONS | BRAIN | SPORADIC PARKINSONS-DISEASE | GAUCHER-DISEASE | Glucosylceramidase - genetics | Demography | Lysosomal Storage Diseases - enzymology | Humans | Lewy Body Disease - complications | Lewy Body Disease - enzymology | Male | Genetic Variation | Lewy Body Disease - genetics | Ethnic Groups - genetics | Nervous System - pathology | Autopsy | Lipids - blood | Aged, 80 and over | Female | Lysosomal Storage Diseases - complications | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Lysosomal Storage Diseases - genetics | Mutation - genetics | Sequence Analysis, DNA | Brain - pathology | Heterozygote | Aged | Genetic research | Ceramides | Lipids | Alzheimer's disease | Analysis | Genes | Brain | Pediatrics | Parkinson's disease | Pathogenesis | Lysergic acid diethylamide | Parkinsons disease | Association analysis | Biology | Genomes | Lysergide | Sphingolipids | Epidemiology | Gene sequencing | Genetic analysis | Aging | Genetics | Movement disorders | Public health | Autopsies | Biochemical analysis | Neurodegenerative diseases | Lewy body disease | Disease control | Lewy bodies | Carriers | Medicine | Pathology | Neurology | Brain research | Storage | Biomarkers | Mutation | Alzheimers disease
Journal Article
Pediatric health, medicine and therapeutics, ISSN 1179-9927, 2017, Volume 8, pp. 73 - 81
Gaucher disease (GD) is a heritable storage disorder caused by functional defects of the lysosomal acid β-glucosidase and the accumulation of glucosylceramide... 
Studies | Enzymes | Pediatrics | Anemia | Clinical trials | FDA approval | Bone diseases | Patients | Drug dosages | Blood | Gaucher disease | Enzyme replacement therapy | Taliglucerase alfa
Journal Article
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 2007, Volume 29, Issue 8, pp. 1645 - 1654
Journal Article