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Neurology
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August 23, 2006
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
A Schulze, G F Hoffmann, P Bachert, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2010
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
E J Footitt, J Stafford, M Dixon, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 30, 2010
Novel mutations in pyridoxine-dependent epilepsy
A Millet, G S Salomons, F Cneude, et al.
Journal of Inherited Metabolic Disease
|
October 19, 2013
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
H Puusepp, K Kall, G S Salomons, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2016
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E E Jansen, K R Vogel, G S Salomons, et al.
Neuropediatrics
|
January 22, 2003
Congenital creatine transporter deficiency
T J deGrauw, G S Salomons, K M Cecil, et al.
Brain & Development
|
November 6, 2007
L-2-Hydroxyglutaric aciduria presenting with severe autistic features
D I Zafeiriou, A Ververi, G S Salomons, et al.
Neuromuscular Disorders : NMD
|
June 18, 2013
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency
S Nouioua, D Cheillan, S Zaouidi, et al.
Molecular Genetics and Metabolism
|
August 11, 2006
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
L S Almeida, E H Rosenberg, C Martinez-Muñoz, et al.
Neuropediatrics
|
October 12, 2005
Atypical MRI findings in Canavan disease: a patient with a mild course
C Yalcinkaya, G Benbir, G S Salomons, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 57) with videos related to
Sort By:
Page
of 6
Neurology
|
August 23, 2006
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
A Schulze, G F Hoffmann, P Bachert, et al.
Journal of Inherited Metabolic Disease
|
June 16, 2010
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy
E J Footitt, J Stafford, M Dixon, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 30, 2010
Novel mutations in pyridoxine-dependent epilepsy
A Millet, G S Salomons, F Cneude, et al.
Journal of Inherited Metabolic Disease
|
October 19, 2013
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
H Puusepp, K Kall, G S Salomons, et al.
Journal of Inherited Metabolic Disease
|
October 1, 2016
Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism
E E Jansen, K R Vogel, G S Salomons, et al.
Neuropediatrics
|
January 22, 2003
Congenital creatine transporter deficiency
T J deGrauw, G S Salomons, K M Cecil, et al.
Brain & Development
|
November 6, 2007
L-2-Hydroxyglutaric aciduria presenting with severe autistic features
D I Zafeiriou, A Ververi, G S Salomons, et al.
Neuromuscular Disorders : NMD
|
June 18, 2013
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency
S Nouioua, D Cheillan, S Zaouidi, et al.
Molecular Genetics and Metabolism
|
August 11, 2006
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts
L S Almeida, E H Rosenberg, C Martinez-Muñoz, et al.
Neuropediatrics
|
October 12, 2005
Atypical MRI findings in Canavan disease: a patient with a mild course
C Yalcinkaya, G Benbir, G S Salomons, et al.
Page
of 6