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Journal of Inherited Metabolic Disease
|
January 1, 1992
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
S P Horslen, A M Lawson, M Malone, et al.
Pediatric Research
|
April 1, 1995
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
P T Clayton, M Casteels, G Mieli-Vergani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 1986
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts
A M Lawson, M J Madigan, D Shortland, et al.
American Journal of Medical Genetics
|
September 25, 1995
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome
J A Hyett, P T Clayton, G Moscoso, et al.
European Journal of Pediatrics
|
April 1, 1986
Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11
J K Wales, V Walker, I E Moore, et al.
Journal of Inherited Metabolic Disease
|
May 19, 1998
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates
J S Sequeira, A Vellodi, M T Vanier, et al.
The Journal of Pediatrics
|
January 15, 1998
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
A A Morris, P T Clayton, R A Surtees, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2000
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
C J Wilson, K G Van Wyk, J V Leonard, et al.
The Journal of Clinical Investigation
|
April 1, 1990
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency
P T Clayton, E Patel, A M Lawson, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
P B Mills, K Mills, N Mian, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 101) with videos related to
Sort By:
Page
of 11
Journal of Inherited Metabolic Disease
|
January 1, 1992
3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
S P Horslen, A M Lawson, M Malone, et al.
Pediatric Research
|
April 1, 1995
Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols: a new inborn error of bile acid synthesis?
P T Clayton, M Casteels, G Mieli-Vergani, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
December 15, 1986
Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts
A M Lawson, M J Madigan, D Shortland, et al.
American Journal of Medical Genetics
|
September 25, 1995
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome
J A Hyett, P T Clayton, G Moscoso, et al.
European Journal of Pediatrics
|
April 1, 1986
Bronze baby syndrome, biliary hypoplasia, incomplete Beckwith-Wiedemann syndrome and partial trisomy 11
J K Wales, V Walker, I E Moore, et al.
Journal of Inherited Metabolic Disease
|
May 19, 1998
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates
J S Sequeira, A Vellodi, M T Vanier, et al.
The Journal of Pediatrics
|
January 15, 1998
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
A A Morris, P T Clayton, R A Surtees, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2000
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
C J Wilson, K G Van Wyk, J V Leonard, et al.
The Journal of Clinical Investigation
|
April 1, 1990
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency
P T Clayton, E Patel, A M Lawson, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
P B Mills, K Mills, N Mian, et al.
Page
of 11