[Biotinidase deficiency: the two faces of metabolic screening].
作者信息
Pintos-Morell Guillem
出版信息
Med Clin (Barc). 2011 Oct 22;137(11):497-9. doi: 10.1016/j.medcli.2011.05.007. Epub 2011 Jul 20.
PMID:21764085
Abstract
摘要
相似文献
1
[Biotinidase deficiency: the two faces of metabolic screening].[生物素酶缺乏症：代谢筛查的两面]
Med Clin (Barc). 2011 Oct 22;137(11):497-9. doi: 10.1016/j.medcli.2011.05.007. Epub 2011 Jul 20.
2
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].通过新生儿筛查或针对听力损失或遗传性代谢疾病的选择性筛查发现的生物素酶缺乏症患者的临床和基因学发现
Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12.
3
Clinical issues and frequent questions about biotinidase deficiency.生物素酶缺乏症的临床问题及常见疑问。
Mol Genet Metab. 2010 May;100(1):6-13. doi: 10.1016/j.ymgme.2010.01.003. Epub 2010 Jan 11.
4
Biotinidase deficiency and our champagne legacy.生物素酶缺乏症与我们的香槟传承。
Gene. 2016 Sep 10;589(2):142-50. doi: 10.1016/j.gene.2015.10.010. Epub 2015 Oct 9.
5
Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".生物素酶缺乏症：“如果非得患上一种遗传性代谢疾病，那这种病就是最好的选择”。
Genet Med. 2012 Jun;14(6):565-75. doi: 10.1038/gim.2011.6. Epub 2012 Jan 5.
6
Hemophagocytic syndrome in a 4-month-old infant with biotinidase deficiency.婴儿期生物素酶缺乏致噬血细胞综合征 4 个月
Pediatr Blood Cancer. 2012 Jul 15;59(1):191-3. doi: 10.1002/pbc.23247. Epub 2011 Aug 16.
7
Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia.新生儿生物素酶缺乏症筛查：安纳托利亚中部四个城市的1年试点研究结果。
J Pediatr Endocrinol Metab. 2009 Dec;22(12):1113-6. doi: 10.1515/jpem.2009.22.12.1113.
8
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.一名49岁因严重生物素酶缺乏导致进行性视神经萎缩的男性视力丧失的逆转情况。
J Neuroophthalmol. 2021 Mar 1;41(1):e27-e30. doi: 10.1097/WNO.0000000000000933.
9
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.25年来，在密歇根州通过新生儿筛查确诊的重度和部分生物素酶缺乏症患者的治疗结果。
Genet Med. 2015 Mar;17(3):205-9. doi: 10.1038/gim.2014.104. Epub 2014 Aug 21.
10
Diagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.来自巴基斯坦的四名生物素酶缺乏症患儿的诊断、治疗及随访
J Coll Physicians Surg Pak. 2013 Nov;23(10):823-5.
Zotero 插件