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[Progress of glutaric aciduria type I].

作者信息

Gao Jin-zhi, Luo Xiao-ping

出版信息

Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):912-4.

PMID:23324148

Abstract

摘要

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相似文献

[Progress of glutaric aciduria type I].

Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):912-4.

Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.

Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003. Epub 2015 Dec 4.

[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].

Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):415-9.

[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].

Zhongguo Dang Dai Er Ke Za Zhi. 2016 May;18(5):460-5. doi: 10.7499/j.issn.1008-8830.2016.05.016.

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism.

Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2220-2228. doi: 10.1016/j.bbadis.2017.05.018. Epub 2017 May 22.

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.

Eur J Pediatr. 2016 Aug;175(8):1123-8. doi: 10.1007/s00431-016-2699-5. Epub 2016 Feb 5.

Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.

Neurogenetics. 2020 Jul;21(3):179-186. doi: 10.1007/s10048-020-00610-9. Epub 2020 Apr 18.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

Mol Genet Metab. 2016 Sep;119(1-2):50-6. doi: 10.1016/j.ymgme.2016.06.012. Epub 2016 Jul 1.

Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.

Clin Chim Acta. 2010 Dec 14;411(23-24):2087-91. doi: 10.1016/j.cca.2010.09.006. Epub 2010 Sep 17.

Newborn babies will be tested for four more disorders, committee decides.

BMJ. 2014 May 12;348:g3267. doi: 10.1136/bmj.g3267.

[Progress of glutaric aciduria type I].

作者信息

Gao Jin-zhi, Luo Xiao-ping

出版信息

Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):912-4.

PMID:23324148

Abstract

摘要