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Proc Natl Acad Sci USA 94:26992704 Sibson NR, Mason GF, Shen J et al (2001) In vivo 13 C NMR measurement of neurotransmitter glutamate cycling, anaplerosis and TCA cycle flux in rat brain during [2- 13 C]glucose infusion

Because Roseys skin changes appeared alongside reduced energy and coat thinning, her veterinarian performed a broader workup, which revealed hypothyroidism as a likely underlying contributor

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As early diagnosis and treatment prevent development of metabolic crisis and cardiomyopathy, most NBS-diagnosed patients are expected to live a normal life span free of symptoms