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Journal of Inherited Metabolic Disease
|
April 9, 2008
Sanfilippo syndrome: a mini-review
M J Valstar, G J G Ruijter, O P van Diggelen, et al.
Journal of Inherited Metabolic Disease
|
July 11, 2006
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities
G J G Ruijter, P E C Mourad-Baars, E Ristoff, et al.
Biochimica Et Biophysica Acta
|
August 11, 2011
Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options
E Oussoren, M M M G Brands, G J G Ruijter, et al.
Molecular Genetics and Metabolism
|
October 16, 2010
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
L F Oemardien, A M Boer, G J G Ruijter, et al.
JIMD Reports
|
November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility study
G J G Ruijter, D A Goudriaan, A M Boer, et al.
Journal of Inherited Metabolic Disease
|
February 25, 2016
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
O L M Meijer, L Welling, M J Valstar, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study
G J G Ruijter, M Boer, C W Weykamp, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
G J G Ruijter, M J Valstar, J M van de Kamp, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Journal of Inherited Metabolic Disease
|
April 9, 2008
Sanfilippo syndrome: a mini-review
M J Valstar, G J G Ruijter, O P van Diggelen, et al.
Journal of Inherited Metabolic Disease
|
July 11, 2006
Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities
G J G Ruijter, P E C Mourad-Baars, E Ristoff, et al.
Biochimica Et Biophysica Acta
|
August 11, 2011
Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options
E Oussoren, M M M G Brands, G J G Ruijter, et al.
Molecular Genetics and Metabolism
|
October 16, 2010
Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots
L F Oemardien, A M Boer, G J G Ruijter, et al.
JIMD Reports
|
November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility study
G J G Ruijter, D A Goudriaan, A M Boer, et al.
Journal of Inherited Metabolic Disease
|
February 25, 2016
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
O L M Meijer, L Welling, M J Valstar, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study
G J G Ruijter, M Boer, C W Weykamp, et al.
Molecular Genetics and Metabolism
|
November 21, 2007
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
G J G Ruijter, M J Valstar, J M van de Kamp, et al.
Page
of 1