Biotinidase deficiency.
作者信息
Tomar Rps, Vashisth D, Vasudevan R
机构信息
Classified Specialist (Paediatrics & Neonatology), Military Hospital, Jalandhar Cantt., Punjab - 144005.
Graded Specialist (Dermatology & Venereology), Military Hospital, Jalandhar Cantt., Punjab - 144005.
出版信息
Med J Armed Forces India. 2012 Jan;68(1):81-3. doi: 10.1016/S0377-1237(11)60118-4. Epub 2012 Jan 18.
Abstract
摘要
相似文献
1
Biotinidase deficiency.生物素酶缺乏症。
Med J Armed Forces India. 2012 Jan;68(1):81-3. doi: 10.1016/S0377-1237(11)60118-4. Epub 2012 Jan 18.
2
Worldwide survey of neonatal screening for biotinidase deficiency.
J Inherit Metab Dis. 1991;14(6):923-7. doi: 10.1007/BF01800475.
3
Neonatal screening for biotinidase deficiency in east-Hungary.
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Why screen newborns for profound and partial biotinidase deficiency?为什么要对新生儿进行全酶型和部分酶型生物素酶缺乏症筛查？
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5
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.部分生物素酶缺乏症通常是由生物素酶基因中的D444H突变引起的。
Hum Genet. 1998 May;102(5):571-5. doi: 10.1007/s004390050742.
6
[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].
Monatsschr Kinderheilkd. 1991 Jun;139(6):349-54.
7
A case of partial biotinidase deficiency associated with autism.一例与自闭症相关的部分生物素酶缺乏症病例。
Child Neuropsychol. 2003 Sep;9(3):184-8. doi: 10.1076/chin.9.3.184.16457.
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Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.疑有多发性硬化症及相关疾病者，应考虑生物素酶缺乏症。
Mult Scler Relat Disord. 2019 Feb;28:26-30. doi: 10.1016/j.msard.2018.11.030. Epub 2018 Nov 28.
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Analysis of mutations causing biotinidase deficiency.导致生物素酶缺乏症的突变分析。
Hum Mutat. 2010 Sep;31(9):983-91. doi: 10.1002/humu.21303.
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The neurology of biotinidase deficiency.生物素酶缺乏症的神经学表现。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12.
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Biotinidase Deficiency With Suspected Sotos Syndrome: A Rare Entity.伴有疑似索托斯综合征的生物素酶缺乏症：一种罕见病症。
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Status of Newborn Screening and Inborn Errors of Metabolism in India.印度的新生儿筛查和先天性代谢缺陷状况。
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本文引用的文献
1
Technical standards and guidelines for the diagnosis of biotinidase deficiency.生物素酶缺乏症诊断的技术标准和指南。
Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f.
2
Biotinidase deficiency with hypertonia as unusual feature.
Indian Pediatr. 2009 Jan;46(1):65-7.
3
Biotinidase deficiency.生物素酶缺乏症
Indian Pediatr. 2008 Sep;45(9):777-9.
4
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.生物素酶严重缺乏患者的预后：新生儿筛查的相关性
Dev Med Child Neurol. 2004 Jul;46(7):481-4. doi: 10.1017/s0012162204000799.
5
Newborn screening in India.印度的新生儿筛查。
Indian J Pediatr. 2004 Feb;71(2):157-60. doi: 10.1007/BF02723099.
6
An approach to neurometabolic disorders by a simple metabolic screen.
Indian Pediatr. 2000 Jan;37(1):63-9.
7
Cerebral metabolic change after treatment in biotinidase deficiency.
J Inherit Metab Dis. 1993;16(2):399-407. doi: 10.1007/BF00710288.
8
Biotinidase deficiency: a survey of 10 cases.生物素酶缺乏症：10例病例调查
Arch Dis Child. 1988 Oct;63(10):1244-9. doi: 10.1136/adc.63.10.1244.
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