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Archives of Disease in Childhood
|
April 20, 1999
An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets
A K Akobeng, P T Clayton, V Miller, et al.
Biochemical Society Transactions
|
December 4, 2003
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
S Eaton, I Chatziandreou, S Krywawych, et al.
Journal of Medical Genetics
|
November 14, 1997
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)
A A Morris, J S Sequeira, M Malone, et al.
Pediatric Research
|
May 1, 1996
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
K Mills, H Mandel, R Montemagno, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
P T Clayton, A Verrips, E Sistermans, et al.
Pediatric Research
|
March 20, 1998
A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry
K A Mills, I Mushtaq, A W Johnson, et al.
Proteomics
|
October 27, 2001
Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis
P B Mills, K Mills, A W Johnson, et al.
Journal of Lipid Research
|
May 1, 1991
Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment
H Ichimiya, B Egestad, H Nazer, et al.
Gut
|
April 1, 1996
Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid
P T Clayton, K A Mills, A W Johnson, et al.
Gastroenterology
|
December 1, 1993
Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease
P T Clayton, A Bowron, K A Mills, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 101) with videos related to
Sort By:
Page
of 11
Archives of Disease in Childhood
|
April 20, 1999
An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets
A K Akobeng, P T Clayton, V Miller, et al.
Biochemical Society Transactions
|
December 4, 2003
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
S Eaton, I Chatziandreou, S Krywawych, et al.
Journal of Medical Genetics
|
November 14, 1997
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)
A A Morris, J S Sequeira, M Malone, et al.
Pediatric Research
|
May 1, 1996
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
K Mills, H Mandel, R Montemagno, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis
P T Clayton, A Verrips, E Sistermans, et al.
Pediatric Research
|
March 20, 1998
A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry
K A Mills, I Mushtaq, A W Johnson, et al.
Proteomics
|
October 27, 2001
Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis
P B Mills, K Mills, A W Johnson, et al.
Journal of Lipid Research
|
May 1, 1991
Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment
H Ichimiya, B Egestad, H Nazer, et al.
Gut
|
April 1, 1996
Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid
P T Clayton, K A Mills, A W Johnson, et al.
Gastroenterology
|
December 1, 1993
Phytosterolemia in children with parenteral nutrition-associated cholestatic liver disease
P T Clayton, A Bowron, K A Mills, et al.
Page
of 11