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Year Number of Results
1980 1
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2007 2
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33 results

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Page 1
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Siri B, Olivieri G, Angeloni A, Cairoli S, Carducci C, Cotugno G, Di Michele S, Giovanniello T, La Marca G, Lepri FR, Novelli A, Rossi C, Semeraro M, Dionisi-Vici C. Siri B, et al. Mol Genet Metab. 2022 Apr;135(4):327-332. doi: 10.1016/j.ymgme.2022.02.008. Epub 2022 Feb 20. Mol Genet Metab. 2022. PMID: 35279366
Herein, we report ten subjects with positive NBS for a mild elevation of citrulline (<100 mumol/L), in whom molecular investigations revealed carriers status for argininosuccinate synthase deficiency, a milder form of argininosuccinate lyase deficiency and …
Herein, we report ten subjects with positive NBS for a mild elevation of citrulline (<100 mumol/L), in whom molecular investigations reve …
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan.
Kido J, Matsumoto S, Häberle J, Nakajima Y, Wada Y, Mochizuki N, Murayama K, Lee T, Mochizuki H, Watanabe Y, Horikawa R, Kasahara M, Nakamura K. Kido J, et al. J Inherit Metab Dis. 2021 Jul;44(4):826-837. doi: 10.1002/jimd.12384. Epub 2021 Apr 18. J Inherit Metab Dis. 2021. PMID: 33840128
A total of 229 patients with UCDs were enrolled in this study: 73 males and 53 females with ornithine transcarbamylase deficiency (OTCD), 33 patients with carbamoylphosphate synthetase 1 deficiency, 48 with argininosuccinate synthetase deficiency, 14 with argininosuccinate …
A total of 229 patients with UCDs were enrolled in this study: 73 males and 53 females with ornithine transcarbamylase deficiency (OTCD), 33 …
Chronic liver involvement in urea cycle disorders.
Ranucci G, Rigoldi M, Cotugno G, Bernabei SM, Liguori A, Gasperini S, Goffredo BM, Martinelli D, Monti L, Francalanci P, Candusso M, Parini R, Dionisi-Vici C. Ranucci G, et al. J Inherit Metab Dis. 2019 Nov;42(6):1118-1127. doi: 10.1002/jimd.12144. Epub 2019 Aug 25. J Inherit Metab Dis. 2019. PMID: 31260111
Chronic liver involvement was observed in over 60% of UCDs patients, and comparison between individual diseases showed a significant higher frequency in argininosuccinate lyase deficiency (ASLD) and in hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) …
Chronic liver involvement was observed in over 60% of UCDs patients, and comparison between individual diseases showed a significant higher …
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening.
Ficicioglu C, Mandell R, Shih VE. Ficicioglu C, et al. Mol Genet Metab. 2009 Nov;98(3):273-7. doi: 10.1016/j.ymgme.2009.06.011. Epub 2009 Jun 25. Mol Genet Metab. 2009. PMID: 19635676 Free PMC article.
Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemic encephalopathy, or later in childhood with episodic vomiting, growth and developmental delay. Abnormal hair, hepatomegaly, and hepatic fib …
Argininosuccinate lyase deficiency is a urea cycle disorder which can present in the neonatal period with hyperammonemi …
Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): experience with four independent CDT analysis methods--misleading results given by the %CDT TIA assay.
Arndt T, Gressner A, Herwig J, Meier U, Sewell AC. Arndt T, et al. Clin Chim Acta. 2006 Nov;373(1-2):117-20. doi: 10.1016/j.cca.2006.05.015. Epub 2006 May 19. Clin Chim Acta. 2006. PMID: 16808909
BACKGROUND: Chronic liver disease can cause false-positive carbohydrate-deficient transferrin (CDT) results mimicking chronic alcohol abuse. We tested whether argininosuccinate lyase deficiency (ASL), a genetic disorder of the urea cycle with hepatomegaly and …
BACKGROUND: Chronic liver disease can cause false-positive carbohydrate-deficient transferrin (CDT) results mimicking chronic alcohol abuse. …
Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disorders.
Lopes FF, Lamberty Faverzani J, Hammerschmidt T, Aguilar Delgado C, Ferreira de Oliveira J, Wajner M, Regla Vargas C. Lopes FF, et al. Arch Biochem Biophys. 2023 Mar 1;736:109526. doi: 10.1016/j.abb.2023.109526. Epub 2023 Jan 24. Arch Biochem Biophys. 2023. PMID: 36702451
The UCD patients group consisted of individuals affected with ornithine transcarbamylase deficiency (n = 8), carbamoyl phosphate synthetase deficiency (n = 2), argininosuccinate synthetase deficiency (n = 2); arginase 1 deficiency (n = 1) and argininosuccinate lyase …
The UCD patients group consisted of individuals affected with ornithine transcarbamylase deficiency (n = 8), carbamoyl phosphate synthetase …
33 results