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Showing results (61-70 of 96) with videos related to

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American Journal of Human Genetics|April 16, 2003
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 geneRob Ofman, Jos P N Ruiter, Marike Feenstra, et al.
Molecular Genetics and Metabolism|October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizuresMarieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Orphanet Journal of Rare Diseases|September 24, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiencyFemke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, et al.
Journal of Inherited Metabolic Disease|March 27, 2012
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongationMarc Engelen, Martin J A Schackmann, Rob Ofman, et al.
American Journal of Medical Genetics. Part A|September 2, 2003
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndromeFernanda A A Langius, Hans R Waterham, Gerrit Jan Romeijn, et al.
Brain Imaging and Behavior|July 21, 2018
Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injuryMarsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, et al.
The New England Journal of Medicine|January 22, 2010
Lovastatin in X-linked adrenoleukodystrophyMarc Engelen, Rob Ofman, Marcel G W Dijkgraaf, et al.
Human Brain Mapping|April 22, 2017
The structural connectome of children with traumatic brain injuryMarsh Königs, L W Ernest van Heurn, Roel Bakx, et al.
Journal of Inherited Metabolic Disease|August 20, 2015
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthoodKevin Berendse, Marc Engelen, Sacha Ferdinandusse, et al.
Analytical Biochemistry|May 21, 2009
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndromeRiekelt H Houtkooper, Richard J Rodenburg, Charlotte Thiels, et al.
Pageof 10

Showing results (61-70 of 96) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|April 16, 2003
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 geneRob Ofman, Jos P N Ruiter, Marike Feenstra, et al.
Molecular Genetics and Metabolism|October 9, 2013
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizuresMarieke G A de Roo, Nico G G M Abeling, Charles B Majoie, et al.
Orphanet Journal of Rare Diseases|September 24, 2024
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiencyFemke C C Klouwer, Stefan D Roosendaal, Carla E M Hollak, et al.
Journal of Inherited Metabolic Disease|March 27, 2012
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongationMarc Engelen, Martin J A Schackmann, Rob Ofman, et al.
American Journal of Medical Genetics. Part A|September 2, 2003
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndromeFernanda A A Langius, Hans R Waterham, Gerrit Jan Romeijn, et al.
Brain Imaging and Behavior|July 21, 2018
Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injuryMarsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, et al.
The New England Journal of Medicine|January 22, 2010
Lovastatin in X-linked adrenoleukodystrophyMarc Engelen, Rob Ofman, Marcel G W Dijkgraaf, et al.
Human Brain Mapping|April 22, 2017
The structural connectome of children with traumatic brain injuryMarsh Königs, L W Ernest van Heurn, Roel Bakx, et al.
Journal of Inherited Metabolic Disease|August 20, 2015
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthoodKevin Berendse, Marc Engelen, Sacha Ferdinandusse, et al.
Analytical Biochemistry|May 21, 2009
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndromeRiekelt H Houtkooper, Richard J Rodenburg, Charlotte Thiels, et al.
Pageof 10