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2013, AHRQ publication, Volume no. 12(13)-EHC154-EF
BACKGROUND: Lysosomal storage diseases (LSDs) comprise about 50 unique monogenic autosomal or X-linked diseases with an estimated combined incidence of 1 in... 
Enzyme Replacement Therapy | drug therapy | Lysosomal Storage Diseases | methods
Web Resource
The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2016, 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... 
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 | Index Medicus | Niemann-Pick-A | B disease
Journal Article
Nature reviews. Drug discovery, ISSN 1474-1776, 11/2016, Volume 15, Issue 11, pp. 750 - 750
Journal Article
Cell Calcium, ISSN 0143-4160, 2011, Volume 50, Issue 2, pp. 200 - 205
Abstract Disrupted cellular Ca2+ signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a... 
Advanced Basic Science | Mucolipidosis type IV | NAADP | NPC1 | MLIV | Lysosomal calcium | Lysosomal storage disease | Niemann-Pick | PROTEIN-KINASE-C | MUCOLIPIDOSIS TYPE-IV | CATION CHANNEL | ACIDIC ORGANELLES | RELEASE CHANNEL | PLASMA-MEMBRANE | CELL BIOLOGY | SPHINGOLIPID METABOLISM | CALCIUM-RELEASE | CHEDIAK-HIGASHI-SYNDROME | 2-PORE CHANNELS
Journal Article
Journal of Inborn Errors of Metabolism and Screening, ISSN 2214-6490, 3/2014, Volume 2, Issue 1-2, p. 1
Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular... 
Journal Article
Journal Article