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MeSH Review

Metabolism, Inborn Errors

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Disease relevance of Metabolism, Inborn Errors


High impact information on Metabolism, Inborn Errors


Chemical compound and disease context of Metabolism, Inborn Errors


Biological context of Metabolism, Inborn Errors


Anatomical context of Metabolism, Inborn Errors


Gene context of Metabolism, Inborn Errors


Analytical, diagnostic and therapeutic context of Metabolism, Inborn Errors


  1. Molecular studies of deletions at the human steroid sulfatase locus. Shapiro, L.J., Yen, P., Pomerantz, D., Martin, E., Rolewic, L., Mohandas, T. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  2. Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. Takeda, A., Tomita, Y., Matsunaga, J., Tagami, H., Shibahara, S. J. Biol. Chem. (1990) [Pubmed]
  3. Regulation of urea synthesis by agmatine in the perfused liver: studies with 15N. Nissim, I., Horyn, O., Daikhin, Y., Nissim, I., Lazarow, A., Yudkoff, M. Am. J. Physiol. Endocrinol. Metab. (2002) [Pubmed]
  4. Children versus adults: pharmacokinetic and adverse-effect differences. Anderson, G.D. Epilepsia (2002) [Pubmed]
  5. Treatment of infantile spasms: medical or surgical? Shields, W.D., Shewmon, D.A., Chugani, H.T., Peacock, W.J. Epilepsia (1992) [Pubmed]
  6. Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern. Rowe, P.C., Valle, D., Brusilow, S.W. JAMA (1988) [Pubmed]
  7. Clinical importance of the cytochromes P450. Nebert, D.W., Russell, D.W. Lancet (2002) [Pubmed]
  8. New pathways of nitrogen excretion in inborn errors of urea synthesis. Brusilow, S.W., Valle, D.L., Batshaw, M. Lancet (1979) [Pubmed]
  9. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Day, D.J., Speiser, P.W., Schulze, E., Bettendorf, M., Fitness, J., Barany, F., White, P.C. Hum. Mol. Genet. (1996) [Pubmed]
  10. Fungal metabolic model for type I 3-methylglutaconic aciduria. Rodríguez, J.M., Ruíz-Sala, P., Ugarte, M., Peñalva, M.A. J. Biol. Chem. (2004) [Pubmed]
  11. Anticonvulsive drugs and blood levels of lactate, pyruvate, and glucose in children with seizures. Carter, A.L., Hartlage, P.L., Eller, A.G., Hommes, F.A. Neurology (1986) [Pubmed]
  12. Metabolic, nutritional, iatrogenic, and artifactual sources of urinary organic acids: a comprehensive table. Kumps, A., Duez, P., Mardens, Y. Clin. Chem. (2002) [Pubmed]
  13. High-resolution 1H-NMR spectroscopy of blood plasma for metabolic studies. Wevers, R.A., Engelke, U., Heerschap, A. Clin. Chem. (1994) [Pubmed]
  14. Low high-density lipoprotein cholesterol: physiological background, clinical importance and drug treatment. Hersberger, M., von Eckardstein, A. Drugs (2003) [Pubmed]
  15. Rapid screening method for detecting mutations in the 21-hydroxylase gene. Oriola, J., Plensa, I., Machuca, I., Pavía, C., Rivera-Fillat, F. Clin. Chem. (1997) [Pubmed]
  16. Cerebrospinal fluid lactate and pyruvate concentrations and their ratio in children: age-related reference intervals. Benoist, J.F., Alberti, C., Leclercq, S., Rigal, O., Jean-Louis, R., Ogier de Baulny, H., Porquet, D., Biou, D. Clin. Chem. (2003) [Pubmed]
  17. Oxidative stress in inborn errors of metabolism: lessons from glutathione deficiency. Ristoff, E., Larsson, A. J. Inherit. Metab. Dis. (2002) [Pubmed]
  18. G protein-coupled receptor structure and function: the impact of disease-causing mutations. Shenker, A. Baillieres Clin. Endocrinol. Metab. (1995) [Pubmed]
  19. Cytoprotective effect of estrogen on ammonium chloride-treated C6-glioma cells. Haghighat, N., Oblinger, M.M., McCandless, D.W. Neurochem. Res. (2004) [Pubmed]
  20. Allogenic stem cell transplantation for nonmalignant disorders using matched unrelated donors. Svenberg, P., Remberger, M., Svennilson, J., Mattsson, J., Leblanc, K., Gustafsson, B., Aschan, J., Barkholt, L., Winiarski, J., Ljungman, P., Ringdén, O. Biol. Blood Marrow Transplant. (2004) [Pubmed]
  21. Stimulation of the brain NO/cyclic GMP pathway by peripheral administration of tetrahydrobiopterin in the hph-1 mouse. Canevari, L., Land, J.M., Clark, J.B., Heales, S.J. J. Neurochem. (1999) [Pubmed]
  22. Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency. Johnson, J.L. Prenat. Diagn. (2003) [Pubmed]
  23. Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Ziadeh, R., Hoffman, E.P., Finegold, D.N., Hoop, R.C., Brackett, J.C., Strauss, A.W., Naylor, E.W. Pediatr. Res. (1995) [Pubmed]
  24. Low mitochondrial glycerol phosphate dehydrogenase and pyruvate carboxylase in pancreatic islets of Zucker diabetic fatty rats. MacDonald, M.J., Tang, J., Polonsky, K.S. Diabetes (1996) [Pubmed]
  25. Molecular studies of genetic disorders affecting the expression of the human beta-globin gene: a model system for the analysis of inborn errors of metabolism. Forget, B.G. Recent Prog. Horm. Res. (1982) [Pubmed]
  26. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. Millington, D.S., Kodo, N., Norwood, D.L., Roe, C.R. J. Inherit. Metab. Dis. (1990) [Pubmed]
  27. Stability of ketone bodies in serum in dependence on storage time and storage temperature. Fritzsche, I., Bührdel, P., Melcher, R., Böhme, H.J. Clin. Lab. (2001) [Pubmed]
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