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FEMS Microbiology Letters
|
May 23, 2002
Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae
Jan H Swiegers, Frédéric M Vaz, Isak S Pretorius, et al.
Journal of Inherited Metabolic Disease
|
December 25, 2009
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
Ali Dursun, Safak Gucer, M S Ebberink, et al.
European Journal of Clinical Nutrition
|
June 23, 2016
Polyunsaturated fatty acid status in treated isovaleric acidemia patients
M Dercksen, W Kulik, L J Mienie, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis
Emmanuel Scalais, Jean Bottu, Ronald J A Wanders, et al.
Pediatric Research
|
December 3, 2009
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2004
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
M A Kurian, S Ryan, G T N Besley, et al.
BMJ Case Reports
|
June 21, 2011
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
Sian A Thompson, Jacqui Calvin, Sarah Hogg, et al.
Journal of Pediatric and Adolescent Gynecology
|
August 4, 2009
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients
Roel Nijland, Francis E Hartog, Ron A Wevers, et al.
Brain : a Journal of Neurology
|
November 22, 2008
Plasmalogens participate in very-long-chain fatty acid-induced pathology
Pedro Brites, Petra A W Mooyer, Leila El Mrabet, et al.
European Journal of Pediatrics
|
January 28, 2003
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome
Karl Otfried Schwab, Regina Ensenauer, Dietrich Matern, et al.
Page
of 48
Search research articles
Search
Showing results (111-120 of 480) with videos related to
Sort By:
Page
of 48
FEMS Microbiology Letters
|
May 23, 2002
Carnitine biosynthesis in Neurospora crassa: identification of a cDNA coding for epsilon-N-trimethyllysine hydroxylase and its functional expression in Saccharomyces cerevisiae
Jan H Swiegers, Frédéric M Vaz, Isak S Pretorius, et al.
Journal of Inherited Metabolic Disease
|
December 25, 2009
Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
Ali Dursun, Safak Gucer, M S Ebberink, et al.
European Journal of Clinical Nutrition
|
June 23, 2016
Polyunsaturated fatty acid status in treated isovaleric acidemia patients
M Dercksen, W Kulik, L J Mienie, et al.
American Journal of Medical Genetics. Part A
|
October 24, 2014
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis
Emmanuel Scalais, Jean Bottu, Ronald J A Wanders, et al.
Pediatric Research
|
December 3, 2009
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
Bianca T van Maldegem, Marinus Duran, Ronald J A Wanders, et al.
Journal of Inherited Metabolic Disease
|
April 7, 2004
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
M A Kurian, S Ryan, G T N Besley, et al.
BMJ Case Reports
|
June 21, 2011
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency
Sian A Thompson, Jacqui Calvin, Sarah Hogg, et al.
Journal of Pediatric and Adolescent Gynecology
|
August 4, 2009
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients
Roel Nijland, Francis E Hartog, Ron A Wevers, et al.
Brain : a Journal of Neurology
|
November 22, 2008
Plasmalogens participate in very-long-chain fatty acid-induced pathology
Pedro Brites, Petra A W Mooyer, Leila El Mrabet, et al.
European Journal of Pediatrics
|
January 28, 2003
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome
Karl Otfried Schwab, Regina Ensenauer, Dietrich Matern, et al.
Page
of 48