Thiamine responsive megaloblastic anemia: the puzzling phenotype.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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2013年學術文章

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name

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

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Thiamine responsive megaloblastic anemia: the puzzling phenotype.

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type

Item

label

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

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Thiamine responsive megaloblastic anemia: the puzzling phenotype.

@nl

prefLabel

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

@en

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

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P1476

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

@en

P2093

Abdulhakim Alrawas

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Ismail Beshlawi

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Mohamed Elshinawy

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Shoaib Al Zadjali

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Wafa Bashir

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Yasser Wali

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P2860

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping

Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype.

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?

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528-531

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scholarly article

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10.1002/PBC.24849

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2013-11-19T00:00:00Z

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24249281

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