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L W J Klomp

Showing results (1-10 of 7) with videos related to

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Journal of Medical Genetics|August 25, 2007
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesP de Bie, P Muller, C Wijmenga, et al.
Journal of Medical Genetics|June 7, 2005
Genetics of familial intrahepatic cholestasis syndromesS W C van Mil, R H J Houwen, L W J Klomp
European Journal of Neurology|July 2, 2009
The copper connectionF H H Linn, K J van Erpecum, L W J Klomp, et al.
Human Mutation|February 24, 2009
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kineticsL Tabatabaie, T J de Koning, A J J M Geboers, et al.
Nederlands Tijdschrift Voor Geneeskunde|April 19, 2003
[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B]J M Stapelbroek, J K Ploos van Amstel, J van Hattum, et al.
Lancet (London, England)|December 22, 2004
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiencyT J de Koning, L W J Klomp, A C C van Oppen, et al.
Journal of Inherited Metabolic Disease|November 30, 2010
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiencyL Tabatabaie, L W J Klomp, M E Rubio-Gozalbo, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Journal of Medical Genetics|August 25, 2007
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesP de Bie, P Muller, C Wijmenga, et al.
Journal of Medical Genetics|June 7, 2005
Genetics of familial intrahepatic cholestasis syndromesS W C van Mil, R H J Houwen, L W J Klomp
European Journal of Neurology|July 2, 2009
The copper connectionF H H Linn, K J van Erpecum, L W J Klomp, et al.
Human Mutation|February 24, 2009
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kineticsL Tabatabaie, T J de Koning, A J J M Geboers, et al.
Nederlands Tijdschrift Voor Geneeskunde|April 19, 2003
[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B]J M Stapelbroek, J K Ploos van Amstel, J van Hattum, et al.
Lancet (London, England)|December 22, 2004
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiencyT J de Koning, L W J Klomp, A C C van Oppen, et al.
Journal of Inherited Metabolic Disease|November 30, 2010
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiencyL Tabatabaie, L W J Klomp, M E Rubio-Gozalbo, et al.
Pageof 1