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H R Waterham

Showing results (41-50 of 97) with videos related to

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Archives of Disease in Childhood. Fetal and Neonatal Edition|January 9, 2004
Novel genotype of mevalonic aciduria with fatalities in premature siblingsP Raupp, E Varady, M Duran, et al.
FEBS Letters|January 11, 1993
Expression and targeting of a 47 kDa integral peroxisomal membrane protein of Candida boidinii in wild type and a peroxisome-deficient mutant of Hansenula polymorphaG J Sulter, H R Waterham, E G Vrieling, et al.
Journal of Inherited Metabolic Disease|December 25, 2009
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nailsAli Dursun, Safak Gucer, M S Ebberink, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 23, 2006
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]C S van Woerden, J W Groothof, R J A Wanders, et al.
Neurology|October 6, 2010
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiencyV Kapina, F Sedel, A Truffert, et al.
Advances in Experimental Medicine and Biology|January 11, 2002
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD geneA B van Kuilenburg, J Haasjes, R Meinsma, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase geneS M Houten, J Frenkel, W Kuis, et al.
Neuropediatrics|June 15, 2006
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defectH Rosewich, H R Waterham, R J A Wanders, et al.
Journal of Medical Genetics|December 20, 2003
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypesJ C Oosterwijk, S Mansour, G van Noort, et al.
Archives of Microbiology|January 1, 1990
Permeability properties of peroxisomal membranes from yeastsA C Douma, M Veenhuis, G J Sulter, et al.
Pageof 10

Showing results (41-50 of 97) with videos related to

Sort By:
Pageof 10
Archives of Disease in Childhood. Fetal and Neonatal Edition|January 9, 2004
Novel genotype of mevalonic aciduria with fatalities in premature siblingsP Raupp, E Varady, M Duran, et al.
FEBS Letters|January 11, 1993
Expression and targeting of a 47 kDa integral peroxisomal membrane protein of Candida boidinii in wild type and a peroxisome-deficient mutant of Hansenula polymorphaG J Sulter, H R Waterham, E G Vrieling, et al.
Journal of Inherited Metabolic Disease|December 25, 2009
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nailsAli Dursun, Safak Gucer, M S Ebberink, et al.
Nederlands Tijdschrift Voor Geneeskunde|August 23, 2006
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene]C S van Woerden, J W Groothof, R J A Wanders, et al.
Neurology|October 6, 2010
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiencyV Kapina, F Sedel, A Truffert, et al.
Advances in Experimental Medicine and Biology|January 11, 2002
Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD geneA B van Kuilenburg, J Haasjes, R Meinsma, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase geneS M Houten, J Frenkel, W Kuis, et al.
Neuropediatrics|June 15, 2006
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defectH Rosewich, H R Waterham, R J A Wanders, et al.
Journal of Medical Genetics|December 20, 2003
Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypesJ C Oosterwijk, S Mansour, G van Noort, et al.
Archives of Microbiology|January 1, 1990
Permeability properties of peroxisomal membranes from yeastsA C Douma, M Veenhuis, G J Sulter, et al.
Pageof 10