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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

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Related topics

31 relations
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… Expand
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Highly Cited
2010
Highly Cited
2010
PSEUDO-RESPONSE REGULATORS 9, 7, and 5 Are Transcriptional Repressors in the Arabidopsis Circadian Clock[W][OA]
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
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… Expand
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Highly Cited
2006
Highly Cited
2006
Impact of Unrecognized Myocardial Scar Detected by Cardiac Magnetic Resonance Imaging on Event-Free Survival in Patients Presenting With Signs or Symptoms of Coronary Artery Disease
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
Late Quaternary Extinctions: State of the Debate
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
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… Expand
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Highly Cited
2005
Highly Cited
2005
Evaluation of the accuracy of gadolinium-enhanced cardiovascular magnetic resonance in the diagnosis of cardiac sarcoidosis.
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
Reciprocal Regulation Between TOC1 and LHY/CCA1 Within the Arabidopsis Circadian Clock
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 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… Expand
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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… Expand
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