A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
about
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulationThiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.Anemia in a Child with Deafness: Be Vigilant for a Rare Cause!Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.Treatment of central nervous system manifestations in mitochondrial disorders.Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.Defects of thiamine transport and metabolism.A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 (SLC19A2) mutation.Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report.Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells.Functional role of specific amino acid residues in human thiamine transporter SLC19A2: mutational analysis.Thiamine responsive megaloblastic anemia: the puzzling phenotype.Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings.
P2860
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P2860
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
A novel mutation in the thiami ...... of respiratory chain complex I
@ast
A novel mutation in the thiami ...... of respiratory chain complex I
@en
type
label
A novel mutation in the thiami ...... of respiratory chain complex I
@ast
A novel mutation in the thiami ...... of respiratory chain complex I
@en
prefLabel
A novel mutation in the thiami ...... of respiratory chain complex I
@ast
A novel mutation in the thiami ...... of respiratory chain complex I
@en
P2093
P2860
P356
P1476
A novel mutation in the thiami ...... of respiratory chain complex I
@en
P2093
A J Janssen
P H Heidemann
T Klopstock
P2860
P304
P356
10.1136/JMG.37.9.669
P407
P577
2000-09-01T00:00:00Z