Concepedia

Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications

Kamer Tezcan, Kristal T. Louie, Yong Qu, Jorge Robledo Velásquez, Frank Zaldivar, Natalia Rioseco‐Camacho, Jose A. Camacho

JIMD Reports · 2011 · 11 citations · 11 references

DOI

Concepts

References

11

Urea cycle enzymes

Sw Brusilow · Medical Entomology and Zoology · 2001 · 347 citations

Crystal structure and mechanism of human L‐arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis

A. Humm · The EMBO Journal · 1997 · 126 citations · Full text

, , +9

Identification of novel mutations in the<i>SLC25A15</i>gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi‐Vici et al. · Human Mutation · 2009 · 74 citations

, , +16

Phenotypic variability among patients with hyperornithinaemia–hyperammonaemia–homocitrullinuria syndrome homozygous for the delF188 mutation in <i>SLC25A15</i>

M Lambert, Bryan Lemieux, Joseph W. Soucy et al. · Journal of Medical Genetics · 2008 · 47 citations · Full text

, , +17

Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis

Zuhair N. Al‐Hassnan, Mohamed S. Rashed, Osama Y. Al-Dirbashi et al. · Journal of the Neurological Sciences · 2007 · 42 citations

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