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Acta Paediatrica (Oslo, Norway : 1992)|June 11, 2004
Feeding infants with undiluted goat's milk can mimic tyrosinaemia type 1C J Hendriksz, J H Walter
Journal of Inherited Metabolic Disease|September 10, 2005
Successful pregnancy in a treated patient with biotinidase deficiencyC J Hendriksz, M A Preece, A Chakrapani
Journal of Inherited Metabolic Disease|January 27, 2005
Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutationC J Hendriksz, G M Moss, J E Wraith
Acta Paediatrica (Oslo, Norway : 1992)|March 30, 2004
Homozygous hypercholesterolaemia and ezetimibe: a case reportC J Hendriksz, G Norbury, S Tabrah, et al.
Journal of Inherited Metabolic Disease|January 11, 2012
Intellectual and neurological functioning in Morquio syndrome (MPS IVa)J E Davison, S Kearney, J Horton, et al.
Journal of Inherited Metabolic Disease|May 26, 2004
Juvenile Sandhoff disease--nine new cases and a review of the literatureC J Hendriksz, P C Corry, J E Wraith, et al.
Molecular Genetics and Metabolism|May 14, 2013
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVAC J Hendriksz, P Harmatz, M Beck, et al.
Archives of Disease in Childhood|September 25, 2001
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannoseC J Hendriksz, P McClean, M J Henderson, et al.
Neurology|April 21, 2012
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type CF A Wijburg, F Sedel, M Pineda, et al.
Molecular Genetics and Metabolism Reports|October 27, 2022
MPS VII - Extending the classical phenotypeA Oldham, N J Oxborrow, P Woolfson, et al.
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