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Biotinidase Deficiency
Known as:
Multiple Carboxylase Deficiency, Late-Onset
, Biotinidase Deficiencies
, Biotinidase Deficiency [Disease/Finding]
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A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is…
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National Institutes of Health
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Related topics
Related topics
31 relations
Alopecia
Apnea
Ataxia
Autosomal recessive inheritance
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Biotin deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Identification of the Switch in Early-to-Late Endosome Transition
D. Poteryaev
,
S. Datta
,
Karin B. Ackema
,
M. Zerial
,
A. Spang
Cell
2010
Corpus ID: 8430137
Highly Cited
2010
Highly Cited
2010
PSEUDO-RESPONSE REGULATORS 9, 7, and 5 Are Transcriptional Repressors in the Arabidopsis Circadian Clock[W][OA]
N. Nakamichi
,
T. Kiba
,
Rossana Henriques
,
T. Mizuno
,
N. Chua
,
H. Sakakibara
Plant Cell
2010
Corpus ID: 3273813
PSEUDORESPONSE REGULATOR9 (PRR9), PRR7, and PRR5 regulate the Arabidopsis circadian clock. PRR9, PRR7, and PRR5 proteins…
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Review
2010
Review
2010
Characteristics of secondary, primary, and compensated hypogonadism in aging men: evidence from the European Male Ageing Study.
A. Tajar
,
G. Forti
,
+16 authors
Frederick C W Wu
The Journal of clinical endocrinology and…
2010
Corpus ID: 207079942
CONTEXT The diagnosis of late-onset hypogonadism (LOH) in older men with age-related declines in testosterone (T) is currently…
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Highly Cited
2007
Highly Cited
2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
C. Y. Chow
,
Yanling Zhang
,
+10 authors
M. Meisler
Nature
2007
Corpus ID: 4318210
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells…
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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
R. Kwong
,
A. Chan
,
+4 authors
Roger B. Davis
Circulation
2006
Corpus ID: 6439902
Background— Contrast-enhanced cardiac magnetic resonance imaging (CMR) can determine the extent of myocardial scar from…
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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
J. Locke
,
L. Kozma-Bognár
,
+6 authors
A. Millar
Molecular systems biology
2006
Corpus ID: 4933444
Our computational model of the circadian clock comprised the feedback loop between LATE ELONGATED HYPOCOTYL (LHY), CIRCADIAN…
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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.
J. Smedema
,
G. Snoep
,
+4 authors
H. Crijns
Journal of the American College of Cardiology
2005
Corpus ID: 26655314
Highly Cited
2005
Highly Cited
2005
Extension of a genetic network model by iterative experimentation and mathematical analysis
J. Locke
,
Megan M. Southern
,
+4 authors
A. Millar
Molecular systems biology
2005
Corpus ID: 140661
Circadian clocks involve feedback loops that generate rhythmic expression of key genes. Molecular genetic studies in the higher…
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Highly Cited
2001
Highly Cited
2001
Reciprocal Regulation Between TOC1 and LHY/CCA1 Within the Arabidopsis Circadian Clock
D. Alabadí
,
T. Oyama
,
M. Yanovsky
,
F. Harmon
,
P. Más
,
S. Kay
Science
2001
Corpus ID: 8535547
The interactive regulation between clock genes is central for oscillator function. Here, we show interactions between…
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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
R. Schaffer
,
N. Ramsay
,
+4 authors
G. Coupland
Cell
1998
Corpus ID: 1221071
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