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Difficult management of glucose homeostasis in a 21-month-old child with type 1 diabetes and unknown glutaric aciduria type I: a case report.

作者信息

Marigliano Marco, Anton Genan, Sabbion Alberto, Morandi Anita, Morandi Grazia, Degani Daniela, Maffeis Claudio

出版信息

Diabetes Care. 2013 Sep;36(9):e135-6. doi: 10.2337/dc13-0724.

DOI:10.2337/dc13-0724
PMID:23970718
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3747885/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5cbb/3747885/e56a0ded2a3b/e135fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5cbb/3747885/e56a0ded2a3b/e135fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5cbb/3747885/e56a0ded2a3b/e135fig1.jpg

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引用本文的文献

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2
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本文引用的文献

1
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.戊二酰辅酶A脱氢酶缺乏症儿童和成人的自然病史、预后及治疗效果
Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26.
2
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.新生儿戊二酰辅酶A脱氢酶缺乏症筛查。
J Inherit Metab Dis. 2004;27(6):851-9. doi: 10.1023/B:BOLI.0000045769.96657.af.
3
Mutation analysis in glutaric aciduria type I.I型戊二酸血症的突变分析
J Med Genet. 2000 Mar;37(3):177-81. doi: 10.1136/jmg.37.3.177.
4
Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.戊二酸血症（I型）中的戊二酰辅酶A脱氢酶突变：三十种新突变的综述与报告
Hum Mutat. 1998;12(3):141-4. doi: 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO;2-K.
5
Glutaric aciduria; a "new" disorder of amino acid metabolism.戊二酸尿症；一种氨基酸代谢的“新”紊乱症。
Biochem Med. 1975 Jan;12(1):12-21. doi: 10.1016/0006-2944(75)90091-5.