Pediatria flash
Glutarico-aciduria di tipo 1
Valentina Carrato
Scuola di Specializzazione in Pediatria, Università di Trieste
Gennaio 2017 - pagg. 44 -46
a cura di Irene Bruno
Suggerite dall'AI
Classificazione MeSH
Contenuto riservato
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Bibliografia
• Heringer J, Valayannopoulos V, Lund AM, et al.; additional individual
contributors of the E-IMD consortium. Impact of age at onset and
newborn screening on outcome in organic acidurias. J Inherit Metab
Dis 2016;39(3):341-53.
• Hoffmann GF, Zschocke J. Glutaric aciduria type I: from clinical,
biochemical and molecular diversity to successful therapy. J Inherit
Metab Dis 1999;22(4):381-91.
• Kölker S, Christensen E, Leonard JV, et al. Diagnosis and management
of glutaric aciduria type I - revised recommendations. J Inherit
Metab Dis 2011;34(3):677-94.
• Mohamed S, Hamad MH, Hassan HH, Salih MA. Glutaric aciduria
type 1 as a cause of dystonic cerebral palsy. Saudi Med J 2015;36
(11):1354-7.
• Vester ME, Visser G, Wijburg FA, van Spronsen FJ, Williams M,
van Rijn RR. Occurrence of subdural hematomas in Dutch glutaric aciduria
type 1 patients. Eur J Pediatr 2016;175(7):1001-6.
• Wang Q, Li X, Ding Y, Liu Y, Song J, Yang Y. Clinical and mutational
spectra of 23 Chinese patients with glutaric aciduria type 1.
Brain Dev 2014;36(9):813-22.
Corrispondenza: irene.bruno@burlo.trieste.it
