Biotinidase Deficiency

Known as: Multiple Carboxylase Deficiency, Late-Onset, Biotinidase Deficiencies, Biotinidase Deficiency [Disease/Finding] 
A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Sequential transport from early to late endosomes requires the coordinated activities of the small GTPases Rab5 and Rab7. The… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVES We examined whether the presence and extent of late gadolinium enhancement (LGE) by cardiovascular magnetic resonance… (More)
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Highly Cited
2007
Highly Cited
2007
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells… (More)
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Highly Cited
2006
Highly Cited
2006
Our computational model of the circadian clock comprised the feedback loop between LATE ELONGATED HYPOCOTYL (LHY), CIRCADIAN… (More)
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Highly Cited
2005
Highly Cited
2005
In higher plants, the circadian clock orchestrates fundamental processes such as light signaling and the transition to flowering… (More)
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Highly Cited
1998
Highly Cited
1998
The dominant late elongated hypocotyl (lhy) mutation of Arabidopsis disrupted circadian clock regulation of gene expression and… (More)
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1998
1998
Children with biotinidase deficiency usually exhibit symptoms at several months to years of age. We describe four children who… (More)
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1990
1990
Neonatal screening for profound biotinidase deficiency (less than 10% of the mean normal activity level) has identified a group… (More)
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Review
1985
Review
1985
The recent finding that biotinidase deficiency is the primary biochemical defect in late-onset multiple carboxylase deficiency… (More)
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Highly Cited
1983
Highly Cited
1983
Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, seizures and ataxia and… (More)
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