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1998 | 2 |
2010 | 2 |
2024 | 0 |
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Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Hum Genet. 1998 May;102(5):571-5. doi: 10.1007/s004390050742.
Hum Genet. 1998.
PMID: 9654207
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.
Norrgard KJ, Pomponio RJ, Swango KL, Hymes J, Reynolds T, Buck GA, Wolf B.
Norrgard KJ, et al.
Hum Mutat. 1998;11(5):410. doi: 10.1002/(SICI)1098-1004(1998)11:5<410::AID-HUMU10>3.0.CO;2-8.
Hum Mutat. 1998.
PMID: 10206677
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Technical standards and guidelines for the diagnosis of biotinidase deficiency.
Cowan TM, Blitzer MG, Wolf B; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee.
Cowan TM, et al.
Genet Med. 2010 Jul;12(7):464-70. doi: 10.1097/GIM.0b013e3181e4cc0f.
Genet Med. 2010.
PMID: 20539236
Free article.
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High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
Milánkovics I, Németh K, Somogyi C, Schuler A, Fekete G.
Milánkovics I, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S289-92. doi: 10.1007/s10545-010-9152-0. Epub 2010 Jun 15.
J Inherit Metab Dis. 2010.
PMID: 20549359
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