Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
about
Thiamine transporter-2 deficiency: outcome and treatment monitoringBiotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.Role of HIF-1α in the hypoxia inducible expression of the thiamine transporter, SLC19A3.Treatment of genetic defects of thiamine transport and metabolism.Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
P2860
Q30832915-D76C3562-388B-4C67-8F8B-010FC699EAB8Q31146270-357E9347-2D9C-48CD-B0A8-836E5744EBCDQ38733863-55ABE2FD-B7C7-4BAD-8056-34C0CAF2097FQ38837368-58125EBD-1E1D-4069-B3F3-F6128F958696Q42486103-9A87AF3A-AC6A-4287-90E8-D5844F414A3AQ45965170-A2C3C22E-C973-44CE-BD93-74194AA8B00FQ47139687-1778C72F-0D7F-46B9-BA99-F13EA73DB7F5Q52086538-5254FA5F-C8FE-4E36-BCEB-AE17AADD3357Q52098860-510BC56F-0050-425C-B54D-AFE6882613D4
P2860
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
description
2014 nî lūn-bûn
@nan
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@en
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@nl
type
label
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@en
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@nl
prefLabel
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@en
Stress-induced upregulation of ...... ponsive basal ganglia disease.
@nl
P2093
P2860
P356
P1433
P1476
Stress-induced upregulation of ...... sponsive basal ganglia disease
@en
P2093
Andreas Hahn
Anne Schänzer
Barbara Döring
Bernd Neubauer
Joachim Geyer
Michelle Ondrouschek
Sarah Goos
P2860
P304
P356
10.1111/BPA.12117
P577
2014-01-29T00:00:00Z