Literaturverzeichnis zum Titelthema „Neuropädiatrie – highlighted“
von Privatdozent Dr. Hendrik Jünger, Professor Dr. Andreas Saleh,
Dr. Christine Makowski, Professor Dr. Volker Mall, Professor Dr. Peter Freisinger und Professorin Dr. Juliane Winkelmann
Bayerisches Ärzteblatt 5/2020, Seite 210 ff.
(1) Himmelreich N, Montioli R, Bertoldi M, et al. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Mol Genet Metab.
2019;127(1):12–22. doi:10.1016/j.ymgme.2019.03.009
(2) Kojima K, Nakajima T, Taga N, et al. Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency. Brain. 2019;142(2):322–
333. doi:10.1093/brain/awy331
(3) De Vivo DC, Trifiletti RR, Jacobson RI et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703–9.
(4) Wang D, Pascual JM, De Vivo D. Glucose Transporter Type 1 Deficiency Syndrome.
2002 Jul 30 [updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA) (5) Klepper J, Scheffer H, Elsaid MF et al. Autosomal recessive inheritance of GLUT1
deficiency syndrome. Neuropediatrics. 2009;40:207–10.
(6) Leen WG, Klepper J, Verbeek MM et al. Glucose transporter-1 deficiency syndrome:
the expanding clinical and genetic spectrum of a treatable disorder. Brain.
2010;133:655–70.
(7) Alter AS, Engelstad K, Hinton VJ et al. Long-term clinical course of Glut1 deficiency syndrome. J Child Neurol. 2015;30:160–9.
(8) Pascual JM, Liu P, Mao D et al. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014;71:1255–65
(9) Gerstl L, Bonfert MV, Nicolai T, et al. Childhood stroke: What are the special features of childhood stroke? Der Nervenarzt 2017; 88(12):1367-1376
(10) Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children [published correction appears in Nat Rev Genet. 2018 Feb 19;:]. Nat Rev Genet. 2018;19(5):253–268. doi:10.1038/nrg.2017.116
