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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… 
National Institutes of Health

Related topics

Related topics

31 relations
AlopeciaApneaAtaxiaAutosomal recessive inheritance

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Biotin deficiency

Papers overview

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Highly Cited
2015
Highly Cited
2015
Assessment of myocardial deformation with cardiac magnetic resonance strain imaging improves risk stratification in patients with dilated cardiomyopathy.
AIMS To investigate the prognostic impact of left-ventricular (LV) cardiac magnetic resonance (CMR) deformation imaging in… 
Highly Cited
2013
Highly Cited
2013
Risk Factors and Outcomes for Late Presentation for HIV-Positive Persons in Europe: Results from the Collaboration of Observational HIV Epidemiological Research Europe Study (COHERE)
Amanda Mocroft and colleagues investigate risk factors and health outcomes associated with diagnosis at a late stage of infection… 
Highly Cited
2012
Highly Cited
2012
The Epidemiology of Colectomy in Ulcerative Colitis: Results From a Population-Based Cohort
OBJECTIVES:Previous studies have reported colectomy rates of over 50% in ulcerative colitis (UC), although changes in management… 
Highly Cited
2011
Highly Cited
2011
CIRCADIAN CLOCK-ASSOCIATED 1 and LATE ELONGATED HYPOCOTYL regulate expression of the C-REPEAT BINDING FACTOR (CBF) pathway in Arabidopsis
The C-REPEAT BINDING FACTOR (CBF) cold-response pathway has a prominent role in cold acclimation, the process whereby certain… 
Highly Cited
2009
Highly Cited
2009
Recurrence of atrial fibrillation correlates with the extent of post-procedural late gadolinium enhancement: a pilot study.
Highly Cited
2003
Highly Cited
2003
Anti‐cytokine autoantibodies in autoimmunity: preponderance of neutralizing autoantibodies against interferon‐alpha, interferon‐omega and interleukin‐12 in patients with thymoma and/or myasthenia…
We have screened for spontaneous anticytokine autoantibodies in patients with infections, neoplasms and autoimmune diseases… 
Highly Cited
1999
Highly Cited
1999
The protein kinase CK2 is involved in regulation of circadian rhythms in Arabidopsis.
A wide range of processes in plants, including expression of certain genes, is regulated by endogenous circadian rhythms. The… 
Review
1991
Review
1991
Worldwide survey of neonatal screening for biotinidase deficiency
SummaryNeonatal screening for biotinidase deficiency has been conducted in 14 countries since 1984. To 31 December 1990, 8 532… 
Highly Cited
1989
Highly Cited
1989
Meeting of the apical and basolateral endocytic pathways of the Madin- Darby canine kidney cell in late endosomes
Electron microscopic approaches have been used to study the endocytic pathways from the apical and basolateral surface domains of… 
Review
1985
Review
1985
Biotinidase deficiency: Initial clinical features and rapid diagnosis
Biotinidase deficiency is the primary defect in most individuals with late‐onset multiple carboxylase deficiency. We have… 
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