James Shoemaker, M.D.
Biochemistry and Molecular Biology
Screening children for inborn errors of metabolism using gas chromatography-mass spectrometry and evaluation of special nutritional needs in children with Down's syndrome.
Our clinical activities include screening for inborn errors of metabolism in children by quantifying chemicals in body fluids by gas chromatography-mass spectrometry. We developed a new method of sample preparation which allows carbohydrates and amino and organic acids to be detected in the same sample. Our current research is concerned with the evaluation of special nutritional needs in children with Down syndrome and the diagnosis of vitamin deficiency by quantitation of urinary metabolites after an oral dose of amino acids and other food constituents.
Estimation of glucose utilization in a type 2 diabetes mellitus patient on insulin
analogs with tumor hypoglycemia induced by IGF-II
Chode S, Albert SG, Shoemaker JD and Green AL
Pubmed | Growth Horm. IGF Res.
Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both
enzymes in ammonia detoxification and glucose metabolism
Shah GN, Rubbelke TS, Hendin J, Nguyen H, Waheed A, Shoemaker JD and Sly WS
Pubmed | Proc. Natl. Acad. Sci. U.S.A.