Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. (Q34238290)

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17 January 2020

title

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility (English)

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17 January 2020

5

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17 January 2020

Filippo Maria Santorelli

6

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17 January 2020

Fiorella Piemonte

9

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17 January 2020

author name string

Gaia Giribaldi

1

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17 January 2020

Laura Doria-Lamba

2

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17 January 2020

Roberta Biancheri

3

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17 January 2020

Mariasavina Severino

4

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17 January 2020

Cristina Schiaffino

7

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17 January 2020

Ubaldo Caruso

8

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17 January 2020

Claudio Bruno

10

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17 January 2020

publication date

5 December 2011

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Developmental Medicine and Child Neurology

17 January 2020

published in

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17 January 2020

volume

54

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17 January 2020

issue

5

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page(s)

472-476

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

17 January 2020

cites work

1 reference

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Leigh syndrome: clinical and neuroimaging follow-up

21 January 2018

1 reference

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Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X

Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X

Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04151.X