A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

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Haematological abnormalities in mitochondrial disorders.Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation.

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A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

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A novel mtDNA large-scale muta ...... o predict disease progression?

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A novel mtDNA large-scale muta ...... o predict disease progression?

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A novel mtDNA large-scale muta ...... o predict disease progression?

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A novel mtDNA large-scale muta ...... o predict disease progression?

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Arndt Borkhardt

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Hans-Juergen Laws

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Jochen Ruebo

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Laura Steenpass

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Vera Binder

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Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.

Improved outcomes in the treatment of gastroschisis using a preformed silo and delayed repair approach.

Acquired and inherited disorders of cobalamin and folate in children.

Cutaneous lesions and vitamin B12 deficiency: an often-forgotten link.

Persistence of neutrophil hypersegmentation during recovery from megaloblastic granulopoiesis.

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283-292

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scholarly article

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10.1097/MPH.0B013E3182288249

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2012-05-01T00:00:00Z

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22082743

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22531495

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3302209

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A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

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P2860

P2860

A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression?

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P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

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P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

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