NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

@en

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

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NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

@en

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

@nl

P1476

NFU1 -Related Disorders as Key Differential Diagnosis of Cavitating Leukoencephalopathy.

@en

P2093

Acary Souza Bulle Oliveira

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Fernando George Monteiro Naylor

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Paulo Victor Sgobbi de Souza

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Stênio Burlin

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Thiago Bortholin

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Wladimir Bocca Vieira de Rezende Pinto

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P2860

NFU1 gene mutation and mitochondrial disorders

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Case definition and classification of leukodystrophies and leukoencephalopathies.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

Childhood leukodystrophies: a clinical perspective.

Invited article: an MRI-based approach to the diagnosis of white matter disorders.

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

P304

40-42

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P31

scholarly article

case report

P356

10.1055/S-0037-1606295

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P433

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P478

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P577

2017-08-24T00:00:00Z

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P698

29441221

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P932

5809165

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