Sir Archibald Garrod's inborn errors of metabolism. I. Cystinuria.
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KNOX W E
出版信息
Am J Hum Genet. 1958 Mar;10(1):3-32.
Abstract
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本文引用的文献
1
CYSTINURIA AND CYSTINE LITHIASIS.
Can Med Assoc J. 1934 Sep;31(3):250-5.
2
Protein metabolism in cystinuria.
Biochem J. 1929;23(1):138-48. doi: 10.1042/bj0230138.
3
SULFUR METABOLISM IN CYSTINURIA.
J Clin Invest. 1935 Sep;14(5):517-24. doi: 10.1172/JCI100702.
4
Excretion of amino acids in cystinuria.
Proc Soc Exp Biol Med. 1951 Dec;78(3):705-8. doi: 10.3181/00379727-78-19189.
5
Aminoacid metabolism in cystinuria.
Q J Med. 1951 Jul;20(79):205-19.
6
Conversion of cystathionine labeled with S35 to cystine in vivo.
J Biol Chem. 1950 Aug;185(2):817-26.
7
The pattern of amino-acid excretion in cystinuria.
Ann Hum Genet. 1955 Feb;19(3):196-208. doi: 10.1111/j.1469-1809.1955.tb01344.x.
8
9
Identification of cystine calculi in mink.
Proc Soc Exp Biol Med. 1956 Apr;91(4):560-2. doi: 10.3181/00379727-91-22327.
10
Studies on the treatment of cystinuria.
Br J Urol. 1955 Dec;27(4):317-32. doi: 10.1111/j.1464-410x.1955.tb03486.x.
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