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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 | Niemann-Pick-A | B disease
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, p. e73094
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PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181700
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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2008, Volume 105, Issue 8, pp. 2812 - 2817
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Journal Article
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International Journal of Molecular Sciences, ISSN 1661-6596, 02/2019, Volume 20, Issue 4, p. 843
There is a rising number of evidence indicating the increased risk of cancer development in association with congenital metabolic errors. Although these... 
Sphingolipids | Gaucher disease | Tumor-associated macrophage | Multiple myeloma | Cancer | multiple myeloma | GH3 PITUITARY-CELLS | GLUCOSYLCERAMIDE | sphingolipids | MARKER | BIOCHEMISTRY & MOLECULAR BIOLOGY | tumor-associated macrophage | MODEL | CERAMIDE | CHEMISTRY, MULTIDISCIPLINARY | cancer | LIPID-COMPOSITION | ACCUMULATION | CHITOTRIOSIDASE | EXPRESSION | SAPOSIN C
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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 07/2011, Volume 96, Issue 7, pp. 2194 - 2205
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British Journal of Haematology, ISSN 0007-1048, 05/2014, Volume 165, Issue 4, pp. 427 - 440
Journal Article