A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy

Neuropediatrics 2019; 50(S 01): S1-S10
DOI: 10.1055/s-0039-1685439

Oral Communications

Georg Thieme Verlag KG Stuttgart · New York

I. Dorboz

¹INSERM 1141, Paris, France

,

D.C. Pant

²IDIBELL, Barcelona, Espagne

,

A. Schluter

²IDIBELL, Barcelona, Espagne

,

S. Fourcade

²IDIBELL, Barcelona, Espagne

,

D. Rodriguez

³APHP Trousseau, Paris, France

,

I. Desguerre

⁴APHP Necker Enfants Malades, Paris, France

,

D. Ville

⁵HCL, Neuropédiatrie, Lyon, France

,

L. Colleaux

⁶INSERM 1163, Paris, France

,

A. Pujol

²IDIBELL, Barcelona, Espagne

,

O. Boespflug-Tanguy

⁷APHP, Robert Debré, Paris, France