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Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.

作者信息

Burlina A B, Dermikol M, Mantau A, Piovan S, Grazian L, Zacchello F, Shin Y

机构信息

Department of Pediatrics, University of Padova, Italy.

出版信息

J Inherit Metab Dis. 1996;19(2):209-12. doi: 10.1007/BF01799431.

DOI:10.1007/BF01799431
PMID:8739967
Abstract
摘要

相似文献

1
Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation.
J Inherit Metab Dis. 1996;19(2):209-12. doi: 10.1007/BF01799431.
2
High biotinidase activity in type Ia glycogen storage disease.
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3
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
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Serum biotinidase activity in children with chronic liver disease and its clinical significance.
J Pediatr Gastroenterol Nutr. 2002 Jan;34(1):59-62. doi: 10.1097/00005176-200201000-00014.
5
Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.
J Inherit Metab Dis. 1990;13(1):76-92. doi: 10.1007/BF01799335.
6
Oral biotin treatment is effective for atopic dermatitis in children with low biotinidase activity.口服生物素治疗对生物素酶活性低的儿童特应性皮炎有效。
Acta Paediatr Scand. 1988 Sep;77(5):762-3. doi: 10.1111/j.1651-2227.1988.tb10748.x.
7
Biotinidase deficiency associated with renal loss of biocytin and biotin.
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8
Multiple carboxylase deficiency due to deficiency of biotinidase.
J Neurogenet. 1986 Nov;3(6):357-63. doi: 10.3109/01677068609106859.
9
Biotinidase deficiency: factors responsible for the increased biotin requirement.生物素酶缺乏症：导致生物素需求增加的因素。
J Inherit Metab Dis. 1985;8 Suppl 1:59-64. doi: 10.1007/BF01800661.
10
Biotinidase deficiency: initial clinical features and rapid diagnosis.生物素酶缺乏症：初始临床特征与快速诊断
Ann Neurol. 1985 Nov;18(5):614-7. doi: 10.1002/ana.410180517.

引用本文的文献

1
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.儿科人群中一种罕见的生物素酶缺乏症：基因型-表型分析
J Pediatr Genet. 2022 Nov 1;12(1):1-15. doi: 10.1055/s-0042-1757887. eCollection 2023 Mar.
2
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?超越诊断预测：测量生物素酶活性在肝糖原贮积病中是否有作用？
Mol Genet Metab Rep. 2022 Feb 28;31:100856. doi: 10.1016/j.ymgmr.2022.100856. eCollection 2022 Jun.
3
Biomarkers in Glycogen Storage Diseases: An Update.

本文引用的文献

1
A screening method for biotinidase deficiency in newborns.一种新生儿生物素酶缺乏症的筛查方法。
Clin Chem. 1984 Jan;30(1):125-7.
2
Neonatal screening for biotinidase deficiency in north eastern Italy.
Eur J Pediatr. 1988 Apr;147(3):317-8. doi: 10.1007/BF00442706.
3
Molecular pathology of glucose-6-phosphatase.
FASEB J. 1990 Sep;4(12):2978-88. doi: 10.1096/fasebj.4.12.2168325.
4
糖原贮积病中的生物标志物：最新进展
Int J Mol Sci. 2021 Apr 22;22(9):4381. doi: 10.3390/ijms22094381.
4
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook.评价肝糖原贮积病患者的生物素酶活性。与非典型酶学行为相关的未描述遗传发现：展望。
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S289-94. doi: 10.1007/s10545-010-9139-x. Epub 2010 Jun 8.
5
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.肝糖原贮积症中血清生物素酶活性升高——一种便捷的生物标志物。
J Inherit Metab Dis. 2007 Nov;30(6):896-902. doi: 10.1007/s10545-007-0734-4. Epub 2007 Nov 12.
6
Glycogen storage diseases: new perspectives.糖原贮积病：新观点
World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541.
7
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
J Inherit Metab Dis. 2003;26(8):805-9. doi: 10.1023/B:BOLI.0000009949.65855.4c.
8
Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation.生物素补充后，生物素缺乏儿童的低生物素酶活性恢复正常。
J Inherit Metab Dis. 2003;26(7):715-9. doi: 10.1023/b:boli.0000005661.67240.19.
Diagnosis of glycogen storage disease.
糖原贮积病的诊断。
J Inherit Metab Dis. 1990;13(4):419-34. doi: 10.1007/BF01799499.