A Clinical Guide to Inherited Metabolic Diseases
作者： Joe T. R. Clarke
DOI:
关键词:
摘要: Preface to third edition 1. General principles 2. Neurologic syndrome 3. Metabolic acidosis 4. Hepatic 5. Cardiac syndromes 6. Storage and dysmorphism 7. Acute metabolic illness in the newborn 8. New born screening 9. Laboratory investigation 10. Treatment Index.
amazon.com
springer.com
openlibrary.org参考文章(37)
R Charles Scriver, The Metabolic and Molecular Bases of Inherited Disease ,(1995)
Liver disease in children Cambridge University Press. ,(2007) , 10.1017/CBO9780511547409
Gregg M Talente, Rosalind A Coleman, Craig Alter, Lester Baker, Barbara I Brown, Robert A Cannon, Yong-Tsong Chen, John F Crigler, P Ferreira, James C Haworth, Gail E Herman, Robert M Issenman, James P Keating, Randy Linde, Thomas F Roe, Boris Senior, Joseph I Wolfsdorf, Glycogen Storage Disease in Adults Annals of Internal Medicine. ,vol. 120, pp. 218- 226 ,(1994) , 10.7326/0003-4819-120-3-199402010-00008
Bruce R. Korf, Human Genetics: A Problem-Based Approach ,(2000)
Gilles Lyon, Raymond D. Adams, Neurology of hereditary metabolic diseases of children ,(1982)
[edited by]Carl A. Burtis, Edward A. Ashwood, Tietz textbook of clinical chemistry : W.B.Saunders. ,(2015)
Marshal F. Folstein, Susan E. Folstein, Paul R. McHugh, “Mini-mental state” Journal of Psychiatric Research. ,vol. 12, pp. 189- 198 ,(1975) , 10.1016/0022-3956(75)90026-6
R. J. Pollitt, Disorders of mitochondrial long-chain fatty acid oxidation Journal of Inherited Metabolic Disease. ,vol. 18, pp. 473- 490 ,(1995) , 10.1007/BF00710058
DavidL Sackett, WalterW Holland, Controversy in the detection of disease. The Lancet. ,vol. 306, pp. 357- 359 ,(1975) , 10.1016/S0140-6736(75)92790-7
M.B. Goldstein, R. Bear, R.M.A. Richardson, P.A. Marsden, M.L. Halperin, The Urine Anion Gap: A Clinically Useful Index of Ammonium Excretion The American Journal of the Medical Sciences. ,vol. 292, pp. 198- 202 ,(1986) , 10.1097/00000441-198610000-00003