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  2. Details for: Clinical and biochemical heterogeneity associated with fumarase deficiency.
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Clinical and biochemical heterogeneity associated with fumarase deficiency. [electronic resource]

By:
  • Ottolenghi, Chris
Contributor(s):
  • Hubert, Laurence
  • Allanore, Yannick
  • Brassier, Anais
  • Altuzarra, Cécilia
  • Mellot-Draznieks, Caroline
  • Bekri, Soumeya
  • Goldenberg, Alice
  • Veyrieres, Severine
  • Boddaert, Nathalie
  • Barbier, Valérie
  • Valayannopoulos, Vassili
  • Slama, Abdelhamid
  • Chrétien, Dominique
  • Ricquier, Daniel
  • Marret, Stéphane
  • Frebourg, Thierry
  • Rabier, Daniel
  • Munnich, Arnold
  • de Keyzer, Yves
  • Toulhoat, Hervé
  • de Lonlay, Pascale
Producer: 20140417Description: 1046-52 p. digitalISSN:
  • 1098-1004
Subject(s):
  • Cell Hypoxia
  • Child
  • Child, Preschool
  • Computer Simulation
  • Female
  • Fumarate Hydratase -- chemistry
  • Fumarates -- urine
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit -- metabolism
  • Male
  • Malformations of Cortical Development -- enzymology
  • Mutation -- genetics
  • Signal Transduction
Online resources:
  • Available from publisher's website
In: Human mutation vol. 32
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Publication Type: Journal Article

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Clinical and biochemical heterogeneity associated with fumarase deficiency.

APA

Ottolenghi C., Hubert L., Allanore Y., Brassier A., Altuzarra C., Mellot-Draznieks C., Bekri S., Goldenberg A., Veyrieres S., Boddaert N., Barbier V., Valayannopoulos V., Slama A., Chrétien D., Ricquier D., Marret S., Frebourg T., Rabier D., Munnich A., de Keyzer Y., Toulhoat H. & de Lonlay P. (20140417). Clinical and biochemical heterogeneity associated with fumarase deficiency. : Human mutation.

Chicago

Ottolenghi Chris, Hubert Laurence, Allanore Yannick, Brassier Anais, Altuzarra Cécilia, Mellot-Draznieks Caroline, Bekri Soumeya, Goldenberg Alice, Veyrieres Severine, Boddaert Nathalie, Barbier Valérie, Valayannopoulos Vassili, Slama Abdelhamid, Chrétien Dominique, Ricquier Daniel, Marret Stéphane, Frebourg Thierry, Rabier Daniel, Munnich Arnold, de Keyzer Yves, Toulhoat Hervé and de Lonlay Pascale. 20140417. Clinical and biochemical heterogeneity associated with fumarase deficiency. : Human mutation.

Harvard

Ottolenghi C., Hubert L., Allanore Y., Brassier A., Altuzarra C., Mellot-Draznieks C., Bekri S., Goldenberg A., Veyrieres S., Boddaert N., Barbier V., Valayannopoulos V., Slama A., Chrétien D., Ricquier D., Marret S., Frebourg T., Rabier D., Munnich A., de Keyzer Y., Toulhoat H. and de Lonlay P. (20140417). Clinical and biochemical heterogeneity associated with fumarase deficiency. : Human mutation.

MLA

Ottolenghi Chris, Hubert Laurence, Allanore Yannick, Brassier Anais, Altuzarra Cécilia, Mellot-Draznieks Caroline, Bekri Soumeya, Goldenberg Alice, Veyrieres Severine, Boddaert Nathalie, Barbier Valérie, Valayannopoulos Vassili, Slama Abdelhamid, Chrétien Dominique, Ricquier Daniel, Marret Stéphane, Frebourg Thierry, Rabier Daniel, Munnich Arnold, de Keyzer Yves, Toulhoat Hervé and de Lonlay Pascale. Clinical and biochemical heterogeneity associated with fumarase deficiency. : Human mutation. 20140417.

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