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From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Archive ouverte | Hully, Marie | CCSD

International audience. Introduction Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the bloo...

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Archive ouverte | Seker Yilmaz, Berna | CCSD

International audience. X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hy...

Long term outcome of MPI‐CDG patients on D‐mannose therapy

Archive ouverte | Girard, Muriel | CCSD

International audience. Abstract Mannose phosphate isomerase MPI‐CDG (formerly CDG‐1b) is a potentially fatal inherited metabolic disease which is readily treatable with oral D‐mannose. We retrospectively reviewed l...

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