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2025

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Year Number of Results
1979 1
1984 1
1985 3
1986 1
1987 1
1988 1
1989 4
1991 2
1993 2
1995 1
1996 3
1997 2
1998 4
2000 3
2001 2
2002 3
2003 1
2004 2
2005 6
2006 2
2007 1
2008 2
2010 1
2011 5
2012 3
2013 1
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2024 4
2025 0

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84 results

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Page 1
Biotin: biochemical, physiological and clinical aspects.
Said HM. Said HM. Subcell Biochem. 2012;56:1-19. doi: 10.1007/978-94-007-2199-9_1. Subcell Biochem. 2012. PMID: 22116691 Review.
This is underscored by the serious clinical abnormalities that occur in conditions of biotin deficiency, which include, among other things, growth retardation, neurological disorders, and dermatological abnormalities (reviewed in 1). Studies in animals have also shown that …
This is underscored by the serious clinical abnormalities that occur in conditions of biotin deficiency, which include, among other t …
Genetic mimics of cerebral palsy.
Pearson TS, Pons R, Ghaoui R, Sue CM. Pearson TS, et al. Mov Disord. 2019 May;34(5):625-636. doi: 10.1002/mds.27655. Epub 2019 Mar 26. Mov Disord. 2019. PMID: 30913345 Review.
Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.
Piraccini BM, Berardesca E, Fabbrocini G, Micali G, Tosti A. Piraccini BM, et al. G Ital Dermatol Venereol. 2019 Oct;154(5):557-566. doi: 10.23736/S0392-0488.19.06434-4. G Ital Dermatol Venereol. 2019. PMID: 31638351 Review.
One of the most common micronutrient deficiencies with cutaneous findings is the vitamin B, also known as biotin, deficiency. Biotin deficiency may be due to congenital lack of biotinidase, or acquired following some conditions that interfere with its absorption, su …
One of the most common micronutrient deficiencies with cutaneous findings is the vitamin B, also known as biotin, deficiency. Biotin …
Multiple carboxylase deficiency.
Nyhan WL. Nyhan WL. Int J Biochem. 1988;20(4):363-70. doi: 10.1016/0020-711x(88)90202-9. Int J Biochem. 1988. PMID: 3284772 Review.
1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase. 2. ...In one the fundamental def …
1. The multiple carboxylase deficiencies are inborn errors in the metabolism of biotin in which there is defective activity of …
Mitochondrial myopathies.
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. DiMauro S, et al. Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602. Ann Neurol. 1985. PMID: 3927817 Review.
Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. ...
Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondri …
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism.
Baumgartner ER, Suormala T. Baumgartner ER, et al. Int J Vitam Nutr Res. 1997;67(5):377-84. Int J Vitam Nutr Res. 1997. PMID: 9350481 Review.
Acquired biotin deficiency and the two known congenital disorders of biotin metabolism, biotinidase and holocarboxylase synthetase (HCS) deficiency, all lead to deficiency of the 4 biotin-dependent carboxylases, i.e. to multiple carbox
Acquired biotin deficiency and the two known congenital disorders of biotin metabolism, biotinidase and holocarboxylase syn
Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.
Bandaralage SP, Farnaghi S, Dulhunty JM, Kothari A. Bandaralage SP, et al. Pediatr Radiol. 2016 Mar;46(3):357-64. doi: 10.1007/s00247-015-3492-8. Epub 2016 Jan 11. Pediatr Radiol. 2016. PMID: 26754537 Review.
BACKGROUND: Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. ...Although biochemical assays are required for definitive diagnosis, certain radiologic features assist i …
BACKGROUND: Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatt …
Biotinidase deficiency.
Wolf B, Heard GS. Wolf B, et al. Adv Pediatr. 1991;38:1-21. Adv Pediatr. 1991. PMID: 1927696 Review. No abstract available.
Biotinidase deficiency and our champagne legacy.
Wolf B. Wolf B. Gene. 2016 Sep 10;589(2):142-50. doi: 10.1016/j.gene.2015.10.010. Epub 2015 Oct 9. Gene. 2016. PMID: 26456103 Review.
Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous sy …
Biotinidase is the enzyme that is necessary for the recycling of the vitamin, biotin. Biotinidase deficiency is an autosomal recessiv …
84 results