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3 results 1
Postprint
Consortium of Swiss Academic Libraries

Early neurological impairment and severe anemia in a newborn with Pearson syndrome

Morel, Anne-Sophie ; Joris, Nadia ; Meuli, Reto ; Jacquemont, Sébastien ; Ballhausen, Diana ; Bonafé, Luisa ; Fattet, Sarah ; Tolsa, Jean-François

In: European Journal of Pediatrics, 2009, vol. 168, no. 3, p. 311-315

Postprint
Consortium of Swiss Academic Libraries

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

Jequier Gygax, Marine ; Roulet-Perez, Eliane ; Meagher-Villemure, Kathleen ; Jakobs, Cornelis ; Salomons, Gajja ; Boulat, Olivier ; Superti-Furga, Andrea ; Ballhausen, Diana ; Bonafé, Luisa

In: European Journal of Pediatrics, 2009, vol. 168, no. 8, p. 957-962

Postprint
Consortium of Swiss Academic Libraries

Mitochondrial tRNALeu(UUR) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study

Ballhausen, Diana ; Guerry, Frédéric ; Hahn, Dagmar ; Schaller, André ; Nuoffer, Jean-Marc ; Bonafé, Luisa ; Jeannet, Pierre-Yves ; Jacquemont, Sebastien

In: Journal of Inherited Metabolic Disease, 2010, vol. 33, p. 219-226

3 results 1