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Journal of Inherited Metabolic Disease
|
January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolism
Matthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
World Journal of Gastroenterology
|
July 12, 2012
Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
Nedim Hadžić, Laura N Bull, Peter T Clayton, et al.
The Lancet. Neurology
|
July 23, 2011
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
Manju A Kurian, Paul Gissen, Martin Smith, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 17, 2009
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency
Pushpa Subramaniam, Peter T Clayton, Bernard C Portmann, et al.
Lancet (London, England)
|
March 20, 2004
"African medicine" and Reye's syndrome
Birgit Wittenstein, Valerie Rogers, Vas Novelli, et al.
Developmental Medicine and Child Neurology
|
April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
Bernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Molecular Genetics and Metabolism
|
March 12, 2008
Transaldolase deficiency in a two-year-old boy with cirrhosis
Mirjam M Wamelink, Eduard A Struys, Gajja S Salomons, et al.
Glycobiology
|
March 11, 2003
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random
Kevin Mills, Philippa B Mills, Peter T Clayton, et al.
Free Radical Biology & Medicine
|
September 5, 2002
Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC
Simon A S Pope, Guillaume E Burtin, Peter T Clayton, et al.
Molecular Genetics and Metabolism
|
July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study
Emma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
Page
of 10
Search research articles
Search
Showing results (11-20 of 91) with videos related to
Sort By:
Page
of 10
Journal of Inherited Metabolic Disease
|
January 24, 2019
Disorders affecting vitamin B<sub>6</sub> metabolism
Matthew P Wilson, Barbara Plecko, Philippa B Mills, et al.
World Journal of Gastroenterology
|
July 12, 2012
Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency
Nedim Hadžić, Laura N Bull, Peter T Clayton, et al.
The Lancet. Neurology
|
July 23, 2011
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
Manju A Kurian, Paul Gissen, Martin Smith, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
November 17, 2009
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency
Pushpa Subramaniam, Peter T Clayton, Bernard C Portmann, et al.
Lancet (London, England)
|
March 20, 2004
"African medicine" and Reye's syndrome
Birgit Wittenstein, Valerie Rogers, Vas Novelli, et al.
Developmental Medicine and Child Neurology
|
April 8, 2010
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
Bernhard Schmitt, Matthias Baumgartner, Philippa B Mills, et al.
Molecular Genetics and Metabolism
|
March 12, 2008
Transaldolase deficiency in a two-year-old boy with cirrhosis
Mirjam M Wamelink, Eduard A Struys, Gajja S Salomons, et al.
Glycobiology
|
March 11, 2003
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random
Kevin Mills, Philippa B Mills, Peter T Clayton, et al.
Free Radical Biology & Medicine
|
September 5, 2002
Synthesis and analysis of conjugates of the major vitamin E metabolite, alpha-CEHC
Simon A S Pope, Guillaume E Burtin, Peter T Clayton, et al.
Molecular Genetics and Metabolism
|
July 18, 2025
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency - A cohort study
Emma J Footitt, Chloe Millington, Imogen Newsom-Davis, et al.
Page
of 10