Search research articles
Contact Us
Filters
Showing results (171-180 of 417) with videos related to
Page
of 42
Sort By:
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
October 18, 2002
Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry
D S M Schor, N M Verhoeven, E A Struys, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
November 1, 1994
Amino acids, glucose and lactate concentrations in umbilical cord blood in relation to umbilical artery flow patterns
V H Karsdorp, J M van Vugt, C Jakobs, et al.
FEBS Letters
|
July 14, 1998
Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid
N M Verhoeven, C Jakobs, G Carney, et al.
Neuropediatrics
|
February 7, 1998
L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship
J B de Klerk, J G Huijmans, H Stroink, et al.
European Journal of Pediatrics
|
November 1, 1988
Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid
F Stellaard, S A Langelaar, R M Kok, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism
K M Gibson, L Sweetman, W L Nyhan, et al.
Clinical Genetics
|
September 13, 2001
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations
R Castro, S G Heil, I Rivera, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 15, 1988
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I
C Jakobs, L Dorland, B Wikkerink, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
H G M Oude Luttikhuis, G Touati, D Rabier, et al.
Page
of 42
Search research articles
Search
Showing results (171-180 of 417) with videos related to
Sort By:
Page
of 42
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
October 18, 2002
Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry
D S M Schor, N M Verhoeven, E A Struys, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology
|
November 1, 1994
Amino acids, glucose and lactate concentrations in umbilical cord blood in relation to umbilical artery flow patterns
V H Karsdorp, J M van Vugt, C Jakobs, et al.
FEBS Letters
|
July 14, 1998
Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid
N M Verhoeven, C Jakobs, G Carney, et al.
Neuropediatrics
|
February 7, 1998
L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship
J B de Klerk, J G Huijmans, H Stroink, et al.
European Journal of Pediatrics
|
November 1, 1988
Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid
F Stellaard, S A Langelaar, R M Kok, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 1983
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism
K M Gibson, L Sweetman, W L Nyhan, et al.
Clinical Genetics
|
September 13, 2001
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations
R Castro, S G Heil, I Rivera, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
February 15, 1988
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I
C Jakobs, L Dorland, B Wikkerink, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
H G M Oude Luttikhuis, G Touati, D Rabier, et al.
Page
of 42