摘要:
sci-hub.se 参考文章(48)
Keith N. Drummond, Alfred F. Michael, Robert A. Ulstrom, Robert A. Good, The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria: A new familial disease, with definition of the metabolic abnormality☆ The American Journal of Medicine. ,vol. 37, pp. 928- 948 ,(1964) , 10.1016/0002-9343(64)90134-2
I. N. DUBIN, FRANK B. JOHNSON, CHRONIC IDIOPATHIC JAUNDICE WITH UNIDENTIFIED PIGMENT IN LIVER CELLS Medicine. ,vol. 33, pp. 155- 198 ,(1954) , 10.1097/00005792-195409000-00001
HG HERS, α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease) Biochemical Journal. ,vol. 86, pp. 11- 16 ,(1963) , 10.1042/BJ0860011
CHARLES LOWE, ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATIONA Clinical Entity Archives of Pediatrics & Adolescent Medicine. ,vol. 83, pp. 164- 184 ,(1952) , 10.1001/ARCHPEDI.1952.02040060030004
H. Käser, P. Cottier, I. Antener, Glucoglycinuria, a new familial syndrome The Journal of Pediatrics. ,vol. 61, pp. 386- 394 ,(1962) , 10.1016/S0022-3476(62)80369-2
A. ROBERT ARNSTEIN, Albright's Hereditary Osteodystrophy Annals of Internal Medicine. ,vol. 64, pp. 996- 1008 ,(1966) , 10.7326/0003-4819-64-5-996
Charles M. Huguley, Lloyd H. Smith, Margaret Sullivan, PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA Journal of Clinical Investigation. ,vol. 40, pp. 656- 664 ,(1961) , 10.1172/JCI104298
Mary L. Efron, Emily M. Bixby, Charles V. Pryles, HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE". The New England Journal of Medicine. ,vol. 272, pp. 1299- 1309 ,(1965) , 10.1056/NEJM196506242722501
David D. Hunt, Genevieve Stearns, J.B. McKinley, Edward Froning, Patricia Hicks, Michael Bonfiglio, Long-term study of family with Fanconi syndrome without cystinosis (Detoni-Debré-Fanconi syndrome) The American Journal of Medicine. ,vol. 40, pp. 492- 510 ,(1966) , 10.1016/0002-9343(66)90114-8
G. W. Beadle, E. L. Tatum, Genetic Control of Biochemical Reactions in Neurospora Proceedings of the National Academy of Sciences of the United States of America. ,vol. 27, pp. 499- 506 ,(1941) , 10.1073/PNAS.27.11.499