Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria (Q46448565)

22 December 2017

title

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria (English)

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22 December 2017

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M A Cosson

1

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22 December 2017

G Touati

2

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22 December 2017

F Lacaille

3

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22 December 2017

V Valayannnopoulos

4

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22 December 2017

C Guyot

5

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22 December 2017

G Guest

6

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22 December 2017

V Verkarre

7

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22 December 2017

D Chrétien

8

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22 December 2017

D Rabier

9

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22 December 2017

A Munnich

10

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22 December 2017

J F Benoist

11

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22 December 2017

Y de Keyzer

12

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22 December 2017

P Niaudet

13

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22 December 2017

P de Lonlay

14

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22 December 2017

publication date

3 August 2008

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22 December 2017

Molecular Genetics and Metabolism

published in

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22 December 2017

volume

95

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22 December 2017

page(s)

107-109

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22 December 2017

issue

1-2

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22 December 2017

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

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Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

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Type 1a glycogen storage disease with hepatoblastoma in siblings

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The efficacy of liver transplantation in malignant liver tumors associated with tyrosinemia: clinical and laboratory findings of five cases.

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

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7 January 2021

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7 January 2021

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Effect of 2-Methylcitrate on Citrate Metabolism: Implications for the Management of Patients with Propionic acidemia and Methylmalonic aciduria

7 January 2021

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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

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Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

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Hepatocellular carcinoma after renal transplantation in the absence of cirrhosis or viral hepatitis: a case series

7 January 2021

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Malignancies in renal transplantation: an unmet medical need

7 January 2021

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Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature

7 January 2021

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10.1016/J.YMGME.2008.06.007

7 January 2021

Identifiers

DOI

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22 December 2017

PubMed ID

18676166

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22 December 2017