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Year Number of Results
1985 2
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1987 1
1988 1
1989 3
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1993 1
1994 1
1996 2
1997 1
1998 4
1999 2
2000 1
2001 2
2002 4
2003 2
2004 1
2005 5
2006 4
2008 1
2009 1
2010 1
2011 4
2012 2
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71 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 …
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 absorpt …
One of the most common micronutrient deficiencies with cutaneous findings is the vitamin B, also known as biotin, deficiency. Biotin …
Ataxia.
Winchester S, Singh PK, Mikati MA. Winchester S, et al. Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Handb Clin Neurol. 2013. PMID: 23622331 Review.
., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalents (beni …
., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase …
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 deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death. ...
Biotinidase deficiency is an autosomal recessively inherited metabolic disorder. If untreated, individuals with biotinidase …
The neurology of biotinidase deficiency.
Wolf B. Wolf B. Mol Genet Metab. 2011 Sep-Oct;104(1-2):27-34. doi: 10.1016/j.ymgme.2011.06.001. Epub 2011 Jun 12. Mol Genet Metab. 2011. PMID: 21696988 Review.
Biotinidase deficiency is an autosomal recessively inherited metabolic disorder in which the enzyme, biotinidase, is defective and the vitamin, biotin, is not recycled. Individuals with biotinidase deficiency, if not treated with biotin, usually …
Biotinidase deficiency is an autosomal recessively inherited metabolic disorder in which the enzyme, biotinidase, is de …
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Wolf B. Wolf B. Mol Genet Metab. 2015 Nov;116(3):113-8. doi: 10.1016/j.ymgme.2015.08.012. Epub 2015 Sep 3. Mol Genet Metab. 2015. PMID: 26358973 Review.
Multiple symptomatic children with biotinidase deficiency have exhibited spastic para- or tetraplegia due to myelopathy with and without vision loss. ...Many of these children have gone weeks to months before they were correctly diagnosed with biotinidase …
Multiple symptomatic children with biotinidase deficiency have exhibited spastic para- or tetraplegia due to myelopathy with a …
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Teive HAG, Camargo CHF, Pereira ER, Coutinho L, Munhoz RP. Teive HAG, et al. Neurogenetics. 2022 Jul;23(3):167-177. doi: 10.1007/s10048-022-00688-3. Epub 2022 Apr 9. Neurogenetics. 2022. PMID: 35397036 Review.
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxyla …
This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive d …
Cost-Effectiveness Methods and Newborn Screening Assessment.
Castilla-Rodríguez I, Vallejo-Torres L, Couce ML, Valcárcel-Nazco C, Mar J, Serrano-Aguilar P. Castilla-Rodríguez I, et al. Adv Exp Med Biol. 2017;1031:267-281. doi: 10.1007/978-3-319-67144-4_16. Adv Exp Med Biol. 2017. PMID: 29214578 Review.
71 results