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Journal of Inherited Metabolic Disease|February 7, 2013
Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and managementGuirish A Solanki, Kenneth W Martin, Mary C Theroux, et al.
Pediatrics|January 2, 2009
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis ILorne A Clarke, J Edmond Wraith, Michael Beck, et al.
Molecular Genetics and Metabolism|March 6, 2007
The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type IGregory M Pastores, Pamela Arn, Michael Beck, et al.
American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.
Orphanet Journal of Rare Diseases|June 7, 2015
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisationLine Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus Juul Olsen, et al.
The Prostate|November 7, 2017
99m Tc-MIP-1404-SPECT/CT for the detection of PSMA-positive lesions in 225 patients with biochemical recurrence of prostate cancerChristian Schmidkonz, Claudia Hollweg, Michael Beck, et al.
Human Molecular Genetics|January 5, 2002
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaChristina F Chakarova, Matthew M Hims, Hanno Bolz, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 2, 2010
Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performanceGeorg Winterer, Kirstin Mittelstrass, Ina Giegling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfaRaphael Schiffmann, Markus Ries, Derek Blankenship, et al.
Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.
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