Structure of the human biotinidase gene.

Structure of the human biotinidase gene.

Item
http://www.wikidata.org/entity/Q32073748
Biotin and biotinidase deficiencyMutations in BTD causing biotinidase deficiencyDevelopment and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorderBiological functions of biotinylated histones.Synthetic ecosystems based on airborne inter- and intrakingdom communication.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 degenerationBiotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.Biotinyl-methyl 4-(amidomethyl)benzoate is a competitive inhibitor of human biotinidase.Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency.First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Technical standards and guidelines for the diagnosis of biotinidase deficiency.Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
P2860

Structure of the human biotinidase gene.

Item
http://www.wikidata.org/entity/Q32073748
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Structure of the human biotinidase gene.
@ast
Structure of the human biotinidase gene.
@en
type
label
Structure of the human biotinidase gene.
@ast
Structure of the human biotinidase gene.
@en
prefLabel
Structure of the human biotinidase gene.
@ast
Structure of the human biotinidase gene.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P6179
P698
P356
P1433
P1476
Structure of the human biotinidase gene.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P6179
P698