Hyperornithinemia-hyperammonemia-homocitrullinuria: a rare neurometabolic disorder in two siblings

Author:

Rizkallah Diane,Daher Rose T.,Haddad Laith,Karam Pascale E.

Publisher

Springer Science and Business Media LLC

Reference14 articles.

1. Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK (2008) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. J Neurol Sci 264(1–2):187–94

2. Billingham MJ, Rizk R (2021) Role of early management of hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome in pregnancy. BMJ Case Rep 14:7

3. Camacho J, Rioseco-Camacho N (1993–2023) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW et al (eds) GeneReviews. Seattle, Washington. https://www.ncbi.nlm.nih.gov/books/NBK97260/

4. Dweikat I, Khalaf-Nazzal R (2022) Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene. Front Genet 24(13):1004598

5. Fernando M, Vijay S, Santra S, Preece MA, Brown R, Rodrigues A et al (2021) Wilson’s disease and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in a child: a case report with lessons learned! Euroasian J Hepatogastroenterol 11(2):100–102

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