| Victor R. Preedy, Ronald R. Watson - 1998 - 394 páginas
...gastrointestinal diseases. References 1. Semenza G, Auricchio S. Small intestinal disaccharidases. In: Scriver CR, Beaudet AL, Sly WS et al (Eds) The Metabolic Basis of Inherited Diseases, 6th edn. McGraw-Hill, New York, 1989, pp. 2975-2997. 2. Auricchio S, Rubino... | |
| Christos P. Panteliadis, Basil T. Darras - 1999 - 988 páginas
...disease. N Engl J Med 337:133-134 8. Lazarow PB. Moser HW (1995) Disorders of peroxisome biogenesis. In Scriver CR, Beaudet AL, Sly WS, et al. (eds): The Metabolic Basis of Inherited disease, ed 7, New York, McGraw-Hill, p 2287-2324 9. Moser HW, Moser A (1989) Adrenoleukodystrophy... | |
| T.C. Northfield, H. Ahmed, R. Jazwari, P. Zentler-Munro - 2000 - 366 páginas
...treatment with UDCA should be carried out. REFERENCES 1 . Welsh MJ, Tsui L, Boat TF et al. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS et al., eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 3799-3876. 2. FitzSimmons... | |
| Kenneth C. Chern, Michael E. Zegans - 2000 - 566 páginas
...intact and vision may be normal. Reference Witkop CJ Jr. Quevedo WC Jr. Fitzpatrick TB. et al. Albinism. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic hasis of inherited disease, 6th ed, vol. 2. New York: McGraw-Hill, 1989:2905-2947. OGUCHI'S DISEASE... | |
| Frederick J. Suchy, Ronald J. Sokol, William F. Balistreri - 2001 - 1016 páginas
...heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 1997:6:695-707. 77. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver...CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995: 1187-1232. 78. Rowe... | |
| J. Thomas Stocker, Louis P. Dehner - 2001 - 786 páginas
...Intern Med 1984:134:250-252. 941. Sandhoff K, Counzelmann E, Neufeld EF, et al. The GM2 gangliosidoses. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill, 1989:1807-1839. 942. Santoscoy R, Walters... | |
| H. David Humes - 2001 - 956 páginas
...Anna Rev Nutr 1987:7:291-320. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill, 1989:2049. Kelley's Essentials of Internai... | |
| Orlando J. Miller, Eeva Therman - 2001 - 530 páginas
...Acad Sci USA 7 1:4508-45 12 Cleaver JE, Kraemer KH (1995) Xeroderma pigmentosum and Cockayne syndrome. In: Scriver CR, Beaudet AL, Sly WS, et al. (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 4393-4419 Ellis NA, Groden... | |
| Donald Bentley, Carlos H. Lifschitz, Margaret Lawson - 2002 - 324 páginas
...Colombo JR Increased tryptophan uptake into the brain in hyperammonemia. Life Sci 1983;33:2417-24. 39. Brusilow SW, Horwich AL. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (editors). The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill,... | |
| Michael James Murray - 2002 - 936 páginas
...2nd éd. New York: Bios Scientific Publishers Limited, 1999. 3. Kalow W, Grant DM. Pharmacogenetics. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The metabolic and molecular basis of inherited disease, 8th ed. New York: McGraw-Hill, 2001:225-255. 4. Jurkat-Rott... | |
| |