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Neuropediatrics
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July 13, 2004
D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
S H Korman, G S Salomons, A Gutman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
The first adult case with 4-hydroxybutyric aciduria
C Jakobs, L M Smit, J Kneer, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
July 1, 1990
[Pre- and postnatal diagnosis of organoacidopathies]
G F Hoffmann, C Jakobs, D Rating, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency
E A Struys, E E W Jansen, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings
C Jakobs, J Kneer, D Rating, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 9, 1981
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism
C Jakobs, M Bojasch, E Mönch, et al.
Biorxiv : the Preprint Server for Biology
|
September 24, 2024
Morphological comparison of astrocytes in the lamina cribrosa and glial lamina
Susannah Waxman, Hannah Schilpp, Ashley Linton, et al.
Investigative Ophthalmology & Visual Science
|
March 3, 2025
Morphological Comparison of Astrocytes in the Lamina Cribrosa and Glial Lamina
Susannah Waxman, Hannah Schilpp, Ashley Linton, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
October 12, 1999
Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry
E A Struys, W S Guérand, H J ten Brink, et al.
Journal of Lipid Research
|
February 13, 2001
Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry
D W Johnson, H J ten Brink, R C Schuit, et al.
Page
of 42
Search research articles
Search
Showing results (91-100 of 417) with videos related to
Sort By:
Page
of 42
Neuropediatrics
|
July 13, 2004
D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?
S H Korman, G S Salomons, A Gutman, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
The first adult case with 4-hydroxybutyric aciduria
C Jakobs, L M Smit, J Kneer, et al.
Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|
July 1, 1990
[Pre- and postnatal diagnosis of organoacidopathies]
G F Hoffmann, C Jakobs, D Rating, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography-tandem mass spectrometry: application to SSADH deficiency
E A Struys, E E W Jansen, K M Gibson, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. II. Biochemical findings
C Jakobs, J Kneer, D Rating, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 9, 1981
Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism
C Jakobs, M Bojasch, E Mönch, et al.
Biorxiv : the Preprint Server for Biology
|
September 24, 2024
Morphological comparison of astrocytes in the lamina cribrosa and glial lamina
Susannah Waxman, Hannah Schilpp, Ashley Linton, et al.
Investigative Ophthalmology & Visual Science
|
March 3, 2025
Morphological Comparison of Astrocytes in the Lamina Cribrosa and Glial Lamina
Susannah Waxman, Hannah Schilpp, Ashley Linton, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
October 12, 1999
Combined method for the determination of gamma-aminobutyric and beta-alanine in cerebrospinal fluid by stable isotope dilution mass spectrometry
E A Struys, W S Guérand, H J ten Brink, et al.
Journal of Lipid Research
|
February 13, 2001
Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry
D W Johnson, H J ten Brink, R C Schuit, et al.
Page
of 42