MerlinDX Artikel E72.2
https://www.askep3s.org/9420b4a961/artikel/E72.2
Artikel Klinis ICD-10: E72.2

Gangguan Metabolisme Siklus Urea (Disorders of Urea Cycle Metabolism)

1 menit baca Terverifikasi: 2026-08-05
Bagikan:

📚 Daftar Pustaka (APA 7)

[1]
Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32.
[2]
Seminara J, Gropman AL, Bailey L, et al. Neurologic outcomes, quality of life, and resource utilization for individuals with urea cycle disorders: A systematic review. Mol Genet Metab. 2018;124(4):243-254.
[3]
Batshaw ML, Tuchman M, Summar M, Seminara J. A longitudinal study of urea cycle disorders. Mol Genet Metab. 2014;113(1-2):127-130.
[4]
Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine Transcarbamylase Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington; 2013.
[5]
Ah Mew N, Simpson KL, Gropman AL, et al. Urea Cycle Disorders Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington; 2017.
[6]
Matsumoto S, Häberle J, Kido J, et al. Urea cycle disorders—Update. J Hum Genet. 2019;64(9):833-847.
[7]
Summar ML, Dobbelaere D, Brusilow S, Lee B. Diagnosis, symptoms, frequency and mortality of 200 patients with carbamoyl phosphate synthetase I (CPS I) deficiency as assessed by a multi-centre survey in Japan. J Inherit Metab Dis. 2008;31(2):298-303.
[8]
Wijburg FA, Bentlage AE, Blank AC, et al. Urea cycle disorders in the Netherlands: a nationwide cohort study. Orphanet J Rare Dis. 2019;14(1):1-9.
[9]
Kölker S, Gleich F, Mütze U, Opladen T. Rare Disease Registries—Understanding the Spaces and Places of Rare Disease Registries. Int J Environ Res Public Health. 2020;17(21):8219.
[10]
Berry GT, Steiner RD. Long-term management of patients with urea cycle disorders. J Pediatr. 2019;134(2):1-8.

🔗 Konten Terkait: E72.2

Pathway: E72.2 Disorders of Urea Cycle Metabolis…