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Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

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https://hal-amu.archives-ouvertes.fr/hal-01668649
Contributor : Laurent Villard <>
Submitted on : Wednesday, December 20, 2017 - 10:53:19 AM
Last modification on : Wednesday, August 19, 2020 - 12:08:20 PM

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Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cecile Mignon-Ravix, Brigitte Chabrol, et al.. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. European Journal of Paediatric Neurology, Elsevier, 2017, 21 (5), pp.783 - 786. ⟨10.1016/j.ejpn.2017.04.001⟩. ⟨hal-01668649⟩

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