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Recurrent Encephalopathy with Metabolic Acidosis and Hypoglycemia: Do not Forget Fructose Metabolism.

作者信息

Hiremath Prabhudev M, Nagabushana Divya, Patil Shruthi

机构信息

Department of Neurology, Ramaiah Medical College, Bengaluru, Karnataka, India.

Department of Pediatrics, Ramaiah Medical College, Bengaluru, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):1250-1252. doi: 10.4103/aian.aian_768_22. Epub 2022 Nov 22.

DOI:10.4103/aian.aian_768_22
PMID:36911435
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9996512/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a5c/9996512/70a509f7c1f9/AIAN-25-1250-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a5c/9996512/70a509f7c1f9/AIAN-25-1250-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5a5c/9996512/70a509f7c1f9/AIAN-25-1250-g001.jpg

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本文引用的文献

1
Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency.1,6-二磷酸果糖酶缺乏症患者的临床与分子特征
Int J Mol Sci. 2017 Apr 18;18(4):857. doi: 10.3390/ijms18040857.
2
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis.1,6-二磷酸果糖酶缺乏症分子遗传学研究结果总结,重点关注常见的长程缺失及多重连接依赖探针扩增(MLPA)分析的作用
Orphanet J Rare Dis. 2016 Apr 21;11:44. doi: 10.1186/s13023-016-0415-1.
3
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
一过性假性高甘油三酯血症:果糖-1,6-二磷酸酶缺乏症的有用生化标志物。
Eur J Pediatr. 2013 Sep;172(9):1249-53. doi: 10.1007/s00431-013-2084-6. Epub 2013 Jul 24.
4
Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.人类果糖-1,6-二磷酸酶基因(FBP1):外显子-内含子结构、定位于染色体9q22.2-q22.3带以及对果糖-1,6-二磷酸酶缺乏症患者的突变筛查
Genomics. 1995 Jun 10;27(3):520-5. doi: 10.1006/geno.1995.1085.
5
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.与肝果糖-1,6-二磷酸酶活性缺乏相关的空腹低血糖和代谢性酸中毒。
Lancet. 1970 Jul 4;2(7662):13-6. doi: 10.1016/s0140-6736(70)92474-8.