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Annals of Clinical Biochemistry|September 14, 2002
Pregnancy and inherited metabolic disorders: maternal and fetal complicationsMary Anne Preece, Anne GreenArchives of Disease in Childhood|January 8, 2015
Outcome of children with hereditary tyrosinaemia following newborn screeningP J McKiernan, Mary Anne Preece, Anupam ChakrapaniAnnals of Clinical Biochemistry|June 28, 2008
Can plasma ammonia be measured in patients with acute liver disease?Daniel Juan Herrera, Steven Moore, Sarah Heap, et al.Journal of Inherited Metabolic Disease|January 7, 2009
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapyGermaine Pierre, Kenneth Setchell, Jacqueline Blyth, et al.European Stroke Journal|March 28, 2022
A case series of cerebral venous thrombosis as the first manifestation of homocystinuriaAntonio Ochoa-Ferraro, Subadra Wanninayake, Charlotte Dawson, et al.Journal of Inherited Metabolic Disease|March 30, 2012
Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1David C Bartlett, Mary Anne Preece, Elisabeth Holme, et al.The Journal of Pediatrics|February 21, 2016
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening for HypophosphatasiaVrinda Saraff, Vidya K Narayanan, Alexander J Lawson, et al.Journal of Inherited Metabolic Disease|March 19, 2011
Renal transplantation in a boy with methylmalonic acidaemiaJoanna Clare Clothier, Anupam Chakrapani, Mary-Anne Preece, et al.Annals of Nutrition & Metabolism|September 9, 2014
The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challengeSharon Evans, Anne Daly, John MacDonald, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 10, 2018
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I studyAnita MacDonald, Rachel Webster, Matthew Whitlock, et al.Pageof 2