Biotinidase deficiency—A treatable entity-Reference-Cited by-同舟云学术

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Biotinidase deficiency—A treatable entity

Published:2000-06 Issue:6 Volume:67 Page:464-466
ISSN:0019-5456
Container-title:The Indian Journal of Pediatrics
language:en
Short-container-title:Indian J Pediatr

Author:

Gulati Sheffali,Passi Gouri Rao,Kumar Amit,Kabra Madhulika,Kalra Veena,Verma I C

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF02859471.pdf

Reference11 articles.

1. Andersen JB, Haagerup A, Christensen E. Multiple carboxylase deficiency.Ugeskrift for Laeger 1998; 160 (8): 1151–1157.

2. Wolf B. Worldwide survey of neonatal screening for biotinidase dificiency.J Inherit Metab Dis 1991; 14 (6): 923–927.

3. Mamer OA, Crawhall JC, Tjoa SS. The identification of urinary acids by coupled gas chromatography-mass spectrometry.Clin Chim Acta 1971; 32: 171–184.

4. Chalmers RA, Watts RWE, Lawson AM. A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.Ann Clin Biochem 1977; 14: 149–156.

5. Carballo EC. Detection of inherited neurometabolic disorders—A practical clinical approach.Pediatr Clin N Amer 1992; 39: 801–820.

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Brain MRI findings in an infant with congenital biotinidase deficiency;BMJ Case Reports;2021-10

2. Status of Newborn Screening and Inborn Errors of Metabolism in India;The Indian Journal of Pediatrics;2018-05-07

3. Nutritive Haarwachstumsförderung mit Spurenelementen, Vitaminen und sekundären Pflanzenbegleitstoffen bei Frauen;Aktuelle Dermatologie;2012-05-09

4. The neurology of biotinidase deficiency;Molecular Genetics and Metabolism;2011-09

5. Novel Mutation Causing Partial Biotinidase Deficiency in a Syrian Boy With Infantile Spasms and Retardation;Journal of Child Neurology;2006-11

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