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Bwee-Tien Poll-The

Showing results (41-50 of 96) with videos related to

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Neuropediatrics|April 19, 2016
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal DisordersFemke C C Klouwer, Irene C Huffnagel, Sacha Ferdinandusse, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Biochemical markers predicting survival in peroxisome biogenesis disordersJeannette Gootjes, Petra A W Mooijer, Conny Dekker, et al.
Molecular Genetics and Metabolism Reports|May 7, 2020
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndromeEva M M Hoytema van Konijnenburg, Ilse K Luirink, Sebastian E E Schagen, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Coagulopathy in Zellweger spectrum disorders: a role for vitamin KSara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, et al.
Molecular Genetics and Metabolism|April 20, 2006
High incidence of hyperoxaluria in generalized peroxisomal disordersChristiaan S van Woerden, Jaap W Groothoff, Frits A Wijburg, et al.
Molecular Genetics and Metabolism|April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseasesBwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
American Journal of Medical Genetics. Part A|February 13, 2008
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literatureLeonie A Menke, Bwee Tien Poll-The, Sally-Ann Clur, et al.
Journal of Medical Genetics|April 11, 2013
Rhizomelic chondrodysplasia punctata and cardiac pathologyIrene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, et al.
Journal of Inherited Metabolic Disease|July 6, 2017
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disordersFemke C C Klouwer, Sacha Ferdinandusse, Henk van Lenthe, et al.
Orphanet Journal of Rare Diseases|February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slowIrene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
Pageof 10

Showing results (41-50 of 96) with videos related to

Sort By:
Pageof 10
Neuropediatrics|April 19, 2016
Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal DisordersFemke C C Klouwer, Irene C Huffnagel, Sacha Ferdinandusse, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Biochemical markers predicting survival in peroxisome biogenesis disordersJeannette Gootjes, Petra A W Mooijer, Conny Dekker, et al.
Molecular Genetics and Metabolism Reports|May 7, 2020
Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndromeEva M M Hoytema van Konijnenburg, Ilse K Luirink, Sebastian E E Schagen, et al.
Journal of Inherited Metabolic Disease|November 16, 2017
Coagulopathy in Zellweger spectrum disorders: a role for vitamin KSara Zeynelabidin, Femke C C Klouwer, Joost C M Meijers, et al.
Molecular Genetics and Metabolism|April 20, 2006
High incidence of hyperoxaluria in generalized peroxisomal disordersChristiaan S van Woerden, Jaap W Groothoff, Frits A Wijburg, et al.
Molecular Genetics and Metabolism|April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseasesBwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
American Journal of Medical Genetics. Part A|February 13, 2008
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literatureLeonie A Menke, Bwee Tien Poll-The, Sally-Ann Clur, et al.
Journal of Medical Genetics|April 11, 2013
Rhizomelic chondrodysplasia punctata and cardiac pathologyIrene C Huffnagel, Sally-Ann B Clur, Annemieke M Bams-Mengerink, et al.
Journal of Inherited Metabolic Disease|July 6, 2017
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disordersFemke C C Klouwer, Sacha Ferdinandusse, Henk van Lenthe, et al.
Orphanet Journal of Rare Diseases|February 9, 2019
Disease progression in women with X-linked adrenoleukodystrophy is slowIrene C Huffnagel, Marcel G W Dijkgraaf, Georges E Janssens, et al.
Pageof 10