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1981, Advances in pediatric research., ISBN 0890044767, xxi, 434
Book
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
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 10/2018, Volume 67, Issue 4, pp. 452 - 457
BACKGROUND:Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early-onset, severe, and... 
diagnostic algorithm | lysosomal acid lipase | NUTRITION & DIETETICS | hepatomegaly | PEDIATRICS | dyslipidemia | elevated serum transaminases | GASTROENTEROLOGY & HEPATOLOGY | splenomegaly | DEFICIENCY | FEATURES | Phenotype | Genetic disorders | Research | Diagnosis
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 161 - 161
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 2013, Volume 33, Issue 12, pp. 2909 - 2914
Journal Article
Journal Article