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Citation: Byl. Hsu et al., Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency, MOL GEN MET, 74(1-2), 2001, pp. 248-255

Authors: Bouchard, L Robert, MF Vinarov, D Stanley, CA Thompson, GN Morris, A Leonard, JV Quant, P Hsu, BYL Boneh, A Boukaftane, Y Ashmarina, L Wang, SP Miziorko, H Mitchell, GA

Citation: L. Bouchard et al., Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinicalcourse and description of causal mutations in two patients, PEDIAT RES, 49(3), 2001, pp. 326-331

Authors: Hsu, BYL Kelly, A Thornton, PS Greenberg, CR Dilling, LA Stanley, CA

Citation: Byl. Hsu et al., Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome, J PEDIAT, 138(3), 2001, pp. 383-389

Authors: MacMullen, C Fang, J Hsu, BYL Kelly, A de Lonlay-Debeney, P Saudubray, JM Ganguly, A Smith, TJ Stanley, CA

Citation: C. Macmullen et al., Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase, J CLIN END, 86(4), 2001, pp. 1782-1787

Authors: Stanley, CA Fang, J Kutyna, K Hsu, BYL Ming, JE Glaser, B Poncz, M

Citation: Ca. Stanley et al., Molecular basis and characterization of the hyperinsulinism/hyperammonemiasyndrome - Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene, DIABETES, 49(4), 2000, pp. 667-673