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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… Expand
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… Expand
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Highly Cited
2010
Highly Cited
2010
PSEUDORESPONSE REGULATOR9 (PRR9), PRR7, and PRR5 regulate the Arabidopsis circadian clock. PRR9, PRR7, and PRR5 proteins… Expand
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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… Expand
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Highly Cited
2006
Highly Cited
2006
Background— Contrast-enhanced cardiac magnetic resonance imaging (CMR) can determine the extent of myocardial scar from… Expand
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Highly Cited
2006
Highly Cited
2006
Between fifty and ten thousand years ago, most large mammals became extinct everywhere except Africa. Slow-breeding animals also… Expand
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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… Expand
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Highly Cited
2005
Highly Cited
2005
OBJECTIVES This study analyzed the accuracy of gadolinium-enhanced cardiovascular magnetic resonance (CMR) for the diagnosis of… Expand
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Highly Cited
2001
Highly Cited
2001
The interactive regulation between clock genes is central for oscillator function. Here, we show interactions between… Expand
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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… Expand
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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… Expand
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