Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder
about
The molecular basis of cognitive deficits in pervasive developmental disordersThe Biotinidase Gene Variants Registry: A Paradigm Public DatabaseConditional knockout of the Slc5a6 gene in mouse intestine impairs biotin absorption.Differential gene expression during early development in brains of wildtype and biotinidase-deficient miceNeurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degenerationRegulation of immunological and inflammatory functions by biotin.Developmental window of sensorineural deafness in biotinidase-deficient mice.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Metabolic etiologies in West syndrome.
P2860
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P2860
Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder
description
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
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im Februar 2011 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2011/02/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/02/01)
@nl
наукова стаття, опублікована в лютому 2011
@uk
مقالة علمية (نشرت في فبراير 2011)
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name
Development and characterizati ...... onsive neurocutaneous disorder
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Development and characterizati ...... onsive neurocutaneous disorder
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Development and characterizati ...... onsive neurocutaneous disorder
@nl
type
label
Development and characterizati ...... onsive neurocutaneous disorder
@ast
Development and characterizati ...... onsive neurocutaneous disorder
@en
Development and characterizati ...... onsive neurocutaneous disorder
@nl
prefLabel
Development and characterizati ...... onsive neurocutaneous disorder
@ast
Development and characterizati ...... onsive neurocutaneous disorder
@en
Development and characterizati ...... onsive neurocutaneous disorder
@nl
P2860
P50
P3181
P1476
Development and characterizati ...... onsive neurocutaneous disorder
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P2860
P304
P3181
P356
10.1016/J.YMGME.2010.10.005
P4011
12cbc891ad59630852297f5158b3cf4577c7caa0
P50
P577
2011-02-01T00:00:00Z