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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

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Related topics

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AlopeciaApneaAtaxiaAutosomal recessive inheritance

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Biotin deficiency

Papers overview

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2017
2017
Native T 1 values identify myocardial changes and stratify disease severity in patients with Duchenne muscular dystrophy
Background: Duchenne muscular dystrophy (DMD) is an X-linked, inherited disorder causing dilated cardiomyopathy with variable… 
2015
2015
Association Study of IL-4 -590 C/T and DDX39B -22 G/C Polymorphisms with the Risk of Late-Onset Alzheimer's Disease in Iranian Population.
Interleukin-4 (IL-4), an important anti-inflammatory cytokine, is elucidated to regulate amyloid β-induced production of the… 
2014
2014
Framework for Automatic Delineation of Second Derivative of Photoplethysmogram: A Knowledge-based Approach
Knowledge-based rules for delineating the second derivative of photoplethysmogram (SDPTG), which is widely used as an indicator… 
2012
2012
The Late Acceptance HillClimbing Heuristic
This paper introduces a new and very simple search methodology called Late Acceptance Hill-Climbing (LAHC). It is a one-point… 
2001
2001
Partial Purification and Characterization of Early and Late Endosomes from Yeast
Previously (Singer, B., and Riezman, H. (1990) J. Cell Biol. 110, 191 1-1922), we provided evidence for the existence of an… 
1994
1994
Screening for biotinidase deficiency in some skin diseases.
Biotinidase deficiency is an inherited, autosomal recessive disorder involving gluconeogenesis, synthesis of fatty acids and… 
Review
1987
Review
1987
Sudden death associated with biotinidase deficiency.
To the Editor.— We report a case of sudden death in a patient with presumed biotinidase deficiency and emphasize the importance… 
1985
1985
A curious histamine-sensitizing activity shown by the newly-developed Japanese acellular pertussis vaccine.
A new acellular pertussis vaccine, whose official name is "Precipitated Purified Pertussis Vaccine" (PPV), was prescribed in the… 
1980
1980
Electronic monitoring evidence of fetal distress in high-risk pregnancies.
The oxytocin challenge test (OCT) has been shown in other studies to be valuable in evaluating high-risk pregnancies. The purpose… 
1943
1943
Treatment of Syphilis with Phenarsine Hydrochloride. Preliminary Report.
The therapeutic efficiency of any arsenical preparation for the treatment of syphilis is judged largely from the response of…