Propionyl-CoA-carboxylase determination: study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects.

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作者信息

Divry P, Rolland M O, Dingeon N, Mathieu M, Cotte J, Guibaud P

出版信息

J Inherit Metab Dis. 1978;1(1):3-7. doi: 10.1007/BF01805705.

DOI:10.1007/BF01805705

PMID:117233

Abstract

摘要

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本文引用的文献

Propionicacidemia, a new inborn error of metabolism.

Pediatr Res. 1968 Nov;2(6):519-24. doi: 10.1203/00006450-196811000-00010.

Propionic acidemia in patients with ketotic hyperglycinemia.

J Pediatr. 1971 May;78(5):827-32. doi: 10.1016/s0022-3476(71)80354-2.

[Glycinosis with acidocetosis of late revelation and favorable evolution].

Arch Fr Pediatr. 1970 May;27(5):483-99.

Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".

J Clin Invest. 1971 Jan;50(1):127-30. doi: 10.1172/JCI106466.

Propionicacidaemia in twins.

Arch Dis Child. 1972 Aug;47(254):671. doi: 10.1136/adc.47.254.671.

Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development.

Pediatrics. 1974 Mar;53(3):391-5.

Propionic acidemia: diagnosis by enzyme assay in frozen leukocytes.

J Pediatr. 1973 Oct;83(4):625-8. doi: 10.1016/s0022-3476(73)80226-4.

Some properties of propionyl CoA carboxylase partially purified from human liver.

Biochem Med. 1973 Jun;7(3):473-8. doi: 10.1016/0006-2944(73)90069-0.

Detection of inborn errors of metabolism. II. Defects in propionic acid metabolism.

Clin Genet. 1974;6(2):73-8.

Biotin-responsive propionicacidaemia.

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