Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation-Reference-Cited by-同舟云学术

Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation

Published:2005-12 Issue:6 Volume:28 Page:1136-1138
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Oude Luttikhuis H. G. M.,Touati G.,Rabier D.,Williams M.,Jakobs C.,Saudubray J. M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-005-4545-1

Reference4 articles.

1. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HG (1984) Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherit Metab Dis 7: 182.

2. Baumgartner MR (2005) Molecular mechanism of dominant expression of 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis 28: 301–309.

3. Koeberl DD, Millington DS, Smith WE, et al (2003) Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J Inherit Metab Dis 26(1): 25–35.

4. Ogier de Baulny H, Wendel U, Saudubray JM (2000) Branched-chain organic acidurias. In: Fernandes J, Saudubray JM, Van den Berghe, eds. Inborn Metabolic Diseases—Diagnosis and Treatment. Berlin: Springer, 195–212.

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