Clinical and biochemical heterogeneity associated with fumarase deficiency (Q41935398)

14 October 2017

title

Clinical and biochemical heterogeneity associated with fumarase deficiency (English)

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14 October 2017

author

Vassili Valayannopoulos

12

object named as

Vassili Valayannopoulos

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Caroline Mellot-Draznieks

14 October 2017

6

object named as

Caroline Mellot-Draznieks

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14 October 2017

19

Arnold Munnich

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14 October 2017

Chris Ottolenghi

1

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14 October 2017

Laurence Hubert

2

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14 October 2017

Yannick Allanore

3

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14 October 2017

Anais Brassier

4

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14 October 2017

Cécilia Altuzarra

5

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14 October 2017

Soumeya Bekri

7

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14 October 2017

Alice Goldenberg

8

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14 October 2017

Severine Veyrieres

9

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14 October 2017

Nathalie Boddaert

10

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14 October 2017

Valérie Barbier

11

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14 October 2017

Abdelhamid Slama

13

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14 October 2017

Dominique Chrétien

14

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14 October 2017

Daniel Ricquier

15

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14 October 2017

Stéphane Marret

16

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14 October 2017

Thierry Frebourg

17

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14 October 2017

Daniel Rabier

18

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14 October 2017

Yves de Keyzer

20

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14 October 2017

Hervé Toulhoat

21

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14 October 2017

Pascale de Lonlay

22

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14 October 2017

publication date

12 July 2011

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14 October 2017

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14 October 2017

volume

32

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14 October 2017

issue

9

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14 October 2017

page(s)

1046-1052

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Fumaric aciduria: an overview and the first Brazilian case report.

14 October 2017

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Congenital fumarase deficiency presenting with hypotonia and areflexia.

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Fumarate hydratase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21534

7 January 2021

Molecular analysis and prenatal diagnosis of human fumarase deficiency

1 reference

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7 January 2021

Variability of clinical presentation in fumarate hydratase deficiency

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7 January 2021

Fumaric aciduria: Clinical and imaging features

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7 January 2021

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21534

1 reference

14 October 2017

1 reference