Oktober 2012
33
6
Referentielijst
Arbeiter AK, Kranz B, Wingen AM, Bonzel KE, Dohna-Schwake C, Hanssler L, Neudorf U, Hoyer PF,
and Buscher R. 2010. Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal
dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism. Nephrol
Dial Transplant 25:1257-1265.
Bachmann C. 2003. Long-term outcome of patients with urea cycle disorders and the question of
neonatal screening. Eur J Pediatr 162 Suppl 1:S29-S33.
Bireley WR, Van Hove JL, Gallagher RC, and Fenton LZ. 2012. Urea cycle disorders: brain MRI and
neurological outcome. Pediatr Radiol 42:455-462.
Blau n, Hoffmann GF, Leonard J, and Clarke JTR. 2012. Physician's Guide to the Treatment and
Follow-up of Metabolic Diseases. Springer.
Braissant O. 2010. Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab
100
Suppl 1:S3-S12.
Carbasius Weber E, van Veen M, and Visser G. 2011a. Dieet bij Metabole Ziekten. Utrecht:
ZuidamUithof Drukkerijen.
Carbasius Weber E, van Veen M, and Visser G. 2011b. Dieet bij Metabole Ziekten. Utrecht:
ZuidamUithof Drukkerijen.
Daniotti M, la MG, Fiorini P, and Filippi L. 2011. New developments in the treatment of
hyperammonemia: emerging use of carglumic acid. Int J Gen Med 4:21-28.
Enns GM. 2008. Neurologic damage and neurocognitive dysfunction in urea cycle disorders. Semin
Pediatr Neurol 15:132-139.
Haeberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D,
Sanjurjo CP, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, and Dionisi-Vici C. 2012.
Suggested Guidelines for the Diagnosis and Management of Urea Cycle Disorders. Orphanet J Rare
Dis 7:32.
Iyer H, Sen M, Prasad C, Rupar CA, and Lindsay RM. 2012. Coma, hyperammonemia, metabolic
acidosis, and mutation: lessons learned in the acute management of late onset urea cycle
disorders. Hemodial Int 16:95-100.
Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y,
Yorifuji T, Kasahara M, Horikawa R, and Endo F. 2011. Long-term outcome and intervention of urea
cycle disorders in Japan. J Inherit Metab Dis.
Kuchler G, Rabier D, Poggi-Travert F, Meyer-Gast D, Bardet J, Drouin V, Cadoudal M, and Saudubray
JM. 1996. Therapeutic use of carbamylglutamate in the case of carbamoyl-phosphate synthetase
deficiency. J Inherit Metab Dis 19:220-222.
Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T,
Williamson C, Lachmann RH, and Murphy E. 2012. A series of pregnancies in women with inherited
metabolic disease. J Inherit Metab Dis 35:419-424.