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The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181700
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2009, Volume 361, Issue 4, pp. 425 - 427
Journal Article
Journal Article
Journal of Translational Medicine, ISSN 1479-5876, 09/2018, Volume 16, Issue 1, pp. 248 - 14
Background: Metabolomics represent a valuable tool to recover biological information using body fluids and may help to characterize pathophysiological... 
Metabolomics | Lysosomal storage diseases | Mucopolysaccharidosis type III | Inborn errors of metabolism | Ion mobility | Mass spectrometry | MEDICINE, RESEARCH & EXPERIMENTAL | SANFILIPPO-SYNDROME | LYSOSOMAL STORAGE | SYNDROME TYPE-A | NATURAL-HISTORY | MASS-SPECTROMETRY | DISEASES | THERAPY | SYSTEMS | SPECTRUM | MPS-IIIA | Multivariate Analysis | Mucopolysaccharidosis III - urine | Humans | Middle Aged | Child, Preschool | Infant | Male | Young Adult | Tandem Mass Spectrometry | Mucopolysaccharidosis III - metabolism | Chromatography, Liquid | Adult | Female | Child | Biomarkers - metabolism | Amino Acids - urine | Gene Expression Regulation | Metabolomics - methods | Urinalysis - methods | Algorithms | Metabolic Networks and Pathways | Adolescent | ROC Curve | Aged | Cluster Analysis | Mucopolysaccharidosis | Genetic aspects | Research | Metabolites | Analysis | Disease | Ionic mobility | Proline | Amino acids | Remodeling | Multivariate analysis | Autophagy | Pathways | Arginine | Bioindicators | Urine | Spectroscopy | Enzymes | Data analysis | Computational fluid dynamics | Lysergic acid diethylamide--LSD | Data processing | Mass spectroscopy | Liquid chromatography | Metabolism | High-performance liquid chromatography | Patients | Chromatography | Body fluids | Urea | Biomarkers | Scientific imaging | Metabolic pathways | Metabolic disorders | High performance liquid chromatography | Life Sciences
Journal Article
Rapid Communications in Mass Spectrometry, ISSN 0951-4198, 06/2017, Volume 31, Issue 11, pp. 951 - 963
Journal Article
JAMA Neurology, ISSN 2168-6149, 01/2014, Volume 71, Issue 1, p. 88
  McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth... 
Neuromuscular diseases | Exercise | Pain | Older people | Men | Medical diagnosis | Metabolic disorders | Weight
Journal Article