Argininosuccinic Aciduria

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References

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Erez A, Nagamani, SC & Brendan, L 2011, ‘Argininosuccinate Lyase Deficiency – argininosuccinic aciduria and beyond’, American Journal of Medical Genetics Part C Seminars in Medical Genetics, vol. 157, no. 1, pp. 45-53.

Fichtel, JC, Richards, JA & Davis LS 2007, ‘ Trichorrhexis nodosa secondary to argininosuccinic aciduria’, Pediatr Dermatol, vol. 24, no. 1, pp. 25-27.

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Hu, L, Pandey, AV, Eggimann, S, Rufenacht, V, Moslinger, D, Nuoffer, J & Haberie, J 2013, ‘Understanding the role of argininosuccnate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria’, The Journal of Biological Chemistry, vol. 288, no. 48, pp. 34599-34611.

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Nagamani, SD, Brendan, L & Erez, A 2012, ‘Optimizing therapy for argininosuccinic aciduria’, Molecular Genetics and Metabolism, vol. 107, no. 1, pp. 10-14.