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Heart Failure Reviews
|
February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta, Nili Zucker, George Frenckel, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles
Tessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
JIMD Reports
|
November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine
Katarina Šikić, Tessa M A Peters, Udo Engelke, et al.
NMR in Biomedicine
|
March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
Udo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.
Frontiers in Human Neuroscience
|
January 9, 2014
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)
Martha Spilioti, Athanasios E Evangeliou, Despoina Tramma, et al.
Plos One
|
November 21, 2012
Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice
Rachel P L van Swelm, Coby M M Laarakkers, Ellen C van der Kuur, et al.
Neurology
|
May 3, 2015
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome
Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, et al.
Analytica Chimica Acta
|
November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
Jonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Neurology
|
July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
Miski Mohamed, Angel Ashikov, Mailys Guillard, et al.
European Journal of Human Genetics : EJHG
|
April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome
Michèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
Page
of 27
Search research articles
Search
Showing results (141-150 of 266) with videos related to
Sort By:
Page
of 27
Heart Failure Reviews
|
February 14, 2012
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
Livia Kapusta, Nili Zucker, George Frenckel, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2020
Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles
Tessa M A Peters, Udo F H Engelke, Siebolt de Boer, et al.
JIMD Reports
|
November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine
Katarina Šikić, Tessa M A Peters, Udo Engelke, et al.
NMR in Biomedicine
|
March 17, 2006
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
Udo F H Engelke, Berry Kremer, Leo A J Kluijtmans, et al.
Frontiers in Human Neuroscience
|
January 9, 2014
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD)
Martha Spilioti, Athanasios E Evangeliou, Despoina Tramma, et al.
Plos One
|
November 21, 2012
Identification of novel translational urinary biomarkers for acetaminophen-induced acute liver injury using proteomic profiling in mice
Rachel P L van Swelm, Coby M M Laarakkers, Ellen C van der Kuur, et al.
Neurology
|
May 3, 2015
Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome
Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, et al.
Analytica Chimica Acta
|
November 19, 2019
Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective
Jonathan Martens, Rianne E van Outersterp, Rob J Vreeken, et al.
Neurology
|
July 23, 2013
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport
Miski Mohamed, Angel Ashikov, Mailys Guillard, et al.
European Journal of Human Genetics : EJHG
|
April 6, 2017
Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome
Michèl A Willemsen, Lisenka Elm Vissers, Marcel M Verbeek, et al.
Page
of 27