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1
Enzymic defects in lipid-storage diseases.
Biochem J. 1970 Apr;117(2):8P-10P. doi: 10.1042/bj1170008p.
2
[Enzyme defects in lipid metabolism].
Wien Klin Wochenschr. 1970 Oct 18;82(42):724-7.
3
The chemistry and control of hereditary lipid diseases.
Chem Phys Lipids. 1974 Dec;13(4):271-82. doi: 10.1016/0009-3084(74)90003-6.
4
[Enzyme defects of fat metabolism].
Wien Klin Wochenschr. 1971 Sep 3;83(35):623-4.
5
[Enzymatic aspects of sphingolipoidosis].
Maandschr Kindergeneeskd. 1969 Sep;37(3):74-85.
7
Enzyme deficiency in cholesteryl ester storage idisease.
J Clin Invest. 1972 Jul;51(7):1923-6. doi: 10.1172/JCI106997.
8
Inborn errors of lipid metabolism.
Adv Enzymol Relat Areas Mol Biol. 1973;38:293-315. doi: 10.1002/9780470122839.ch6.
9
Tay-Sachs and other lipid storage diseases.
HSMHA Health Rep. 1971 Sep;86(9):769-74.
10
[Sphingolipidoses. Biochemistry and enzymatic mechanisms].
Nouv Presse Med. 1972 Jun 24;1(26):1789-92.

本文引用的文献

1
METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.
Biochem Biophys Res Commun. 1965 Jan 18;18:221-5. doi: 10.1016/0006-291x(65)90743-6.
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Cerebroside synthesis in Gaucher's disease.
J Clin Invest. 1960 Oct;39(10):1546-50. doi: 10.1172/JCI104175.
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Sphingomyelin synthesis in Niemann-Pick disease.
Am J Clin Nutr. 1961 Jan-Feb;9:63-7. doi: 10.1093/ajcn/9.1.63.
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Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
N Engl J Med. 1967 May 25;276(21):1163-7. doi: 10.1056/NEJM196705252762101.
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Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
J Clin Invest. 1966 Jul;45(7):1112-5. doi: 10.1172/JCI105417.

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