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Molecular Genetics and Metabolism|December 23, 2015
Low bone mineral density is a common finding in patients with homocystinuriaDavid R Weber, Curtis Coughlin, Jill L Brodsky, et al.
AJR. American Journal of Roentgenology|May 23, 2015
Quantification of Bone Marrow Involvement in Treated Gaucher Disease With Proton MR Spectroscopy: Correlation With Bone Marrow MRI Scores and Clinical StatusDiego Jaramillo, Maria A Bedoya, Dah-Jyuu Wang, et al.
Molecular Genetics and Metabolism|September 22, 2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United StatesManisha Balwani, Thomas Andrew Burrow, Joel Charrow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experienceRebecca C Ahrens-Nicklas, Ashley M Whitaker, Paige Kaplan, et al.
The Journal of Pediatrics|May 6, 2004
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)Paul Harmatz, Chester B Whitley, Lewis Waber, et al.
American Journal of Medical Genetics. Part A|August 28, 2010
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung diseaseMatthew G Sampson, Curtis R Coughlin, Paige Kaplan, et al.
Sleep Medicine|September 24, 2011
Sleep in children with Williams SyndromeThornton B A Mason, Raanan Arens, Jaclyn Sharman, et al.
European Journal of Pediatrics|December 17, 2003
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statementsGregory A Grabowski, Generoso Andria, Antonio Baldellou, et al.
European Journal of Pediatrics|December 17, 2003
Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoringAntonio Baldellou, Generoso Andria, Pauline E Campbell, et al.
American Journal of Medical Genetics. Part A|February 13, 2013
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndromeMaria Delio, Kathleen Pope, Tao Wang, et al.
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