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Biochimica Et Biophysica Acta|May 18, 2010
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry diseaseS M Rombach, N Dekker, M G Bouwman, et al.Atherosclerosis|February 15, 2011
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferaseA G Holleboom, J A Kuivenhoven, C C van Olden, et al.Journal of Inherited Metabolic Disease|May 30, 2008
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoringT M Cox, J M F G Aerts, N Belmatoug, et al.Psychological Medicine|May 30, 2017
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuriaE Boot, C E M Hollak, S C J Huijbregts, et al.Molecular Genetics and Metabolism|July 24, 2012
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patientsC E M Hollak, E S V de Sonnaville, D Cassiman, et al.Molecular Genetics and Metabolism|October 15, 2011
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentrationK Anjema, G Venema, F C Hofstede, et al.Blood Cells, Molecules & Diseases|March 10, 2017
Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher diseaseM Biegstraaten, T M Cox, N Belmatoug, et al.Pageof 6