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Developmental Medicine and Child Neurology|September 8, 2011
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiencyRuchi Sharma, Mark J Sharrard, Daniel J Connolly, et al.
JIMD Reports|February 23, 2013
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapyNigel J Manning, Elizabeth K Allen, Richard J Kirk, et al.
Developmental Medicine and Child Neurology|January 27, 2007
Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophyDaniel J Warren, Daniel J A Connolly, Iain D Wilkinson, et al.
The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.
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