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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 2, 2003
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) genePeining Li, Tim Wood, Jerry N Thompson
Molecular Genetics and Metabolism|August 17, 2014
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscapeOlaf A Bodamer, Roberto Giugliani, Tim Wood
Clinical Chemistry|September 12, 2018
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment MonitoringRongrong Huang, Sara Cathey, Laura Pollard, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 12, 2011
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometryJohn Sowell, Joy Norris, Kelly Jones, et al.
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