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Journal of Inherited Metabolic Disease
|
August 2, 2003
X-linked creatine transporter defect: an overview
G S Salomons, S J M van Dooren, N M Verhoeven, et al.
American Journal of Human Genetics
|
April 3, 2001
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
N M Verhoeven, J H Huck, B Roos, et al.
Annals of Neurology
|
April 13, 2000
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
M S van der Knaap, N M Verhoeven, P Maaswinkel-Mooij, et al.
American Journal of Medical Genetics. Part A
|
January 15, 2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
H Caldeira Araújo, W Smit, N M Verhoeven, et al.
NMR in Biomedicine
|
May 18, 2001
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
S H Moolenaar, M S van der Knaap, U F Engelke, et al.
Annals of Neurology
|
December 10, 1999
Leukoencephalopathy associated with a disturbance in the metabolism of polyols
M S van der Knaap, R A Wevers, E A Struys, et al.
Journal of Inherited Metabolic Disease
|
March 7, 2013
An update on serine deficiency disorders
S N van der Crabben, N M Verhoeven-Duif, E H Brilstra, et al.
European Journal of Biochemistry
|
June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acid
A W Zomer, G A Jansen, B Van Der Burg, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2005
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
N M Verhoeven, M Wallot, J H J Huck, et al.
Journal of Mass Spectrometry : JMS
|
May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)
H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
August 2, 2003
X-linked creatine transporter defect: an overview
G S Salomons, S J M van Dooren, N M Verhoeven, et al.
American Journal of Human Genetics
|
April 3, 2001
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway
N M Verhoeven, J H Huck, B Roos, et al.
Annals of Neurology
|
April 13, 2000
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
M S van der Knaap, N M Verhoeven, P Maaswinkel-Mooij, et al.
American Journal of Medical Genetics. Part A
|
January 15, 2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
H Caldeira Araújo, W Smit, N M Verhoeven, et al.
NMR in Biomedicine
|
May 18, 2001
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism
S H Moolenaar, M S van der Knaap, U F Engelke, et al.
Annals of Neurology
|
December 10, 1999
Leukoencephalopathy associated with a disturbance in the metabolism of polyols
M S van der Knaap, R A Wevers, E A Struys, et al.
Journal of Inherited Metabolic Disease
|
March 7, 2013
An update on serine deficiency disorders
S N van der Crabben, N M Verhoeven-Duif, E H Brilstra, et al.
European Journal of Biochemistry
|
June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acid
A W Zomer, G A Jansen, B Van Der Burg, et al.
Journal of Inherited Metabolic Disease
|
May 7, 2005
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
N M Verhoeven, M Wallot, J H J Huck, et al.
Journal of Mass Spectrometry : JMS
|
May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)
H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Page
of 7