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Marinus Duran

Showing results (11-20 of 72) with videos related to

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Journal of Inherited Metabolic Disease|February 9, 2013
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementationEveline E O Hagebeuk, Marinus Duran, Nico G G M Abeling, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2010
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophySacha Ferdinandusse, Simon Barker, Katherine Lachlan, et al.
Metabolic Brain Disease|August 19, 2009
The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine diseaseSema Kalkan Ucar, Mahmut Coker, Sara Habif, et al.
Diabetes|December 25, 2003
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidationAnders Molven, Guri E Matre, Marinus Duran, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.
Hepatology (Baltimore, Md.)|March 30, 2007
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger miceMegan H Keane, Henk Overmars, Thomas M Wikander, et al.
Journal of Inherited Metabolic Disease|December 18, 2012
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuriaMaria Veiga-da-Cunha, Nanda M Verhoeven-Duif, Tom J de Koning, et al.
The Journal of Pediatrics|January 21, 2006
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IASteven M Schade van Westrum, Paul J Nederkoorn, P Richard Schuurman, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Journal of Child Neurology|March 24, 2011
Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patientsEveline E O Hagebeuk, Johannes H T M Koelman, Marinus Duran, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
Journal of Inherited Metabolic Disease|February 9, 2013
S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementationEveline E O Hagebeuk, Marinus Duran, Nico G G M Abeling, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2010
Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophySacha Ferdinandusse, Simon Barker, Katherine Lachlan, et al.
Metabolic Brain Disease|August 19, 2009
The first use of N-carbamylglutamate in a patient with decompensated maple syrup urine diseaseSema Kalkan Ucar, Mahmut Coker, Sara Habif, et al.
Diabetes|December 25, 2003
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidationAnders Molven, Guri E Matre, Marinus Duran, et al.
American Journal of Medical Genetics. Part A|April 21, 2004
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updatePeter G Barth, Fredoen Valianpour, Valerie M Bowen, et al.
Hepatology (Baltimore, Md.)|March 30, 2007
Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger miceMegan H Keane, Henk Overmars, Thomas M Wikander, et al.
Journal of Inherited Metabolic Disease|December 18, 2012
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuriaMaria Veiga-da-Cunha, Nanda M Verhoeven-Duif, Tom J de Koning, et al.
The Journal of Pediatrics|January 21, 2006
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IASteven M Schade van Westrum, Paul J Nederkoorn, P Richard Schuurman, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Journal of Child Neurology|March 24, 2011
Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patientsEveline E O Hagebeuk, Johannes H T M Koelman, Marinus Duran, et al.
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