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Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
International Journal of Neonatal Screening
|
December 27, 2024
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1
Elaine Zaunseder, Julian Teinert, Nikolas Boy, et al.
Biochimica Et Biophysica Acta
|
October 19, 2002
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
Jürgen G Okun, Stefan Kölker, Andreas Schulze, et al.
Frontiers in Oncology
|
June 9, 2020
Mitochondrial Dysfunction Inhibits Hypoxia-Induced HIF-1α Stabilization and Expression of Its Downstream Targets
Marike W van Gisbergen, Kelly Offermans, An M Voets, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
May 26, 2007
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
Andrea Berger, Christiane Schroeter, Adelheid Wiemer-Kruel, et al.
Child Psychiatry and Human Development
|
May 20, 2014
Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric comorbidity
G Engelmann, D Erhard, M Petersen, et al.
Neuropediatrics
|
August 30, 2000
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
A C Muntau, W Röschinger, A Merkenschlager, et al.
Bone Marrow Transplantation
|
August 11, 2001
Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning
C F Classen, A S Schulz, M Sigl-Kraetzig, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]
F K Trefz, G F Hoffmann, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
Roland Posset, Silvana Opp, Eduard A Struys, et al.
Page
of 108
Search research articles
Search
Showing results (661-670 of 1,073) with videos related to
Sort By:
Page
of 108
Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
International Journal of Neonatal Screening
|
December 27, 2024
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1
Elaine Zaunseder, Julian Teinert, Nikolas Boy, et al.
Biochimica Et Biophysica Acta
|
October 19, 2002
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
Jürgen G Okun, Stefan Kölker, Andreas Schulze, et al.
Frontiers in Oncology
|
June 9, 2020
Mitochondrial Dysfunction Inhibits Hypoxia-Induced HIF-1α Stabilization and Expression of Its Downstream Targets
Marike W van Gisbergen, Kelly Offermans, An M Voets, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
May 26, 2007
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
Andrea Berger, Christiane Schroeter, Adelheid Wiemer-Kruel, et al.
Child Psychiatry and Human Development
|
May 20, 2014
Health-related quality of life in adolescents with inflammatory bowel disease depends on disease activity and psychiatric comorbidity
G Engelmann, D Erhard, M Petersen, et al.
Neuropediatrics
|
August 30, 2000
Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?
A C Muntau, W Röschinger, A Merkenschlager, et al.
Bone Marrow Transplantation
|
August 11, 2001
Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning
C F Classen, A S Schulz, M Sigl-Kraetzig, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
November 1, 1991
[Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenase deficiency (glutaric aciduria type I)]
F K Trefz, G F Hoffmann, E Mayatepek, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
Roland Posset, Silvana Opp, Eduard A Struys, et al.
Page
of 108