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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
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2019, Volume 266, Issue 8, pp. 2010 - 2017
Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various... 
Pompe disease | Neurology | Neurosciences | Medicine & Public Health | Enzyme replacement therapy | Diagnostic nodes | ERT initiation | Neuroradiology | ERT cessation | Guidelines | ADULT PATIENTS | MANAGEMENT | CONSENSUS | CLINICAL NEUROLOGY | ALGLUCOSIDASE ALPHA | JUVENILE | PROGRESSION | Enzymes | Respiratory function | Glycogen | Discordance | Diagnosis | Myopathy | Hereditary diseases
Journal Article
European Journal of Neurology, ISSN 1351-5101, 02/2009, Volume 16, Issue 2, pp. 274 - 277
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2006, Volume 8, Issue 5, pp. 267 - 288
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 02/2011, Volume 157, Issue 1, pp. 63 - 71
Journal Article
Journal Article