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

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AlopeciaApneaAtaxiaAutosomal recessive inheritance
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Biotin deficiency

Papers overview

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Highly Cited
2010
Highly Cited
2010
Identification of the Switch in Early-to-Late Endosome Transition
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
Late gadolinium enhancement by cardiovascular magnetic resonance heralds an adverse prognosis in nonischemic cardiomyopathy.
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
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
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
Experimental validation of a predicted feedback loop in the multi-oscillator clock of Arabidopsis thaliana
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
LUX ARRHYTHMO encodes a Myb domain protein essential for circadian rhythms.
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 late elongated hypocotyl Mutation of Arabidopsis Disrupts Circadian Rhythms and the Photoperiodic Control of Flowering
The dominant late elongated hypocotyl (lhy) mutation of Arabidopsis disrupted circadian clock regulation of gene expression and… (More)
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1998
1998
Delayed-onset profound biotinidase deficiency.
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
Partial biotinidase deficiency: clinical and biochemical features.
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
Biotinidase deficiency: A novel vitamin recycling defect
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
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.
Late-onset multiple carboxylase deficiency is characterized clinically by skin rash, alopecia, seizures and ataxia and… (More)
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