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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1978 1
1979 1
1982 1
1983 1
1986 1
1988 2
1993 1
1995 2
1998 1
2000 1
2001 2
2002 2
2004 2
2005 1
2007 2
2008 1
2011 2
2012 4
2013 3
2014 2
2017 2
2018 1
2019 2
2023 1
2024 1

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37 results

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Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To …
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lea …
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.
Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCDs), a group of inborn errors of hepatic metabolism that often result in life-threatening hyperammonemia. Argininosuccinate lyase (ASL) catalyzes the fourth reaction in this cycle, r …
Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCDs), a group of inborn errors of hepatic metabolism that …
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A, Nagamani SC, Lee B. Erez A, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312326 Free PMC article. Review.
Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia. Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourt …
Deficiencies of any of these enzymes of the cycle result in urea cycle disorders (UCD), a group of inborn errors of hepatic metabolism that …
Ataxia.
Winchester S, Singh PK, Mikati MA. Winchester S, et al. Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Handb Clin Neurol. 2013. PMID: 23622331 Review.
., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase deficiency, biotinidase deficiency, Hartnup disease, and argininosuccinic aciduria), migraine, migraine equivalent …
., Kawasaki), metabolic etiologies (e.g., maple syrup urine disease, pyruvate dehydrogenase deficiency, ornithine transcarbamylase …
Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three-dimensional organotypic brain cell cultures.
Diez-Fernandez C, Hertig D, Loup M, Diserens G, Henry H, Vermathen P, Nuoffer JM, Häberle J, Braissant O. Diez-Fernandez C, et al. J Inherit Metab Dis. 2019 Nov;42(6):1077-1087. doi: 10.1002/jimd.12090. Epub 2019 Apr 14. J Inherit Metab Dis. 2019. PMID: 30907007 Free article. Review.
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wide range of phenotypes, from life-threatening neonatal hyperammonemia to asymptomatic patients, with only the biochemical marker arginino
The urea cycle disorder (UCD) argininosuccinate lyase (ASL) deficiency, caused by a defective ASL enzyme, exhibits a wi …
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Baruteau J, Diez-Fernandez C, Lerner S, Ranucci G, Gissen P, Dionisi-Vici C, Nagamani S, Erez A, Häberle J. Baruteau J, et al. J Inherit Metab Dis. 2019 Nov;42(6):1147-1161. doi: 10.1002/jimd.12047. Epub 2019 Feb 5. J Inherit Metab Dis. 2019. PMID: 30723942 Free article. Review.
The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initially described as similar to other urea cycle defects, but increasing evidence has shown overtime an atypical systemic phenotype with a para …
The first patients affected by argininosuccinic aciduria (ASA) were reported 60 years ago. The clinical presentation was initi …
Intragenic complementation and the structure and function of argininosuccinate lyase.
Yu B, Howell PL. Yu B, et al. Cell Mol Life Sci. 2000 Oct;57(11):1637-51. doi: 10.1007/pl00000646. Cell Mol Life Sci. 2000. PMID: 11092456 Review.
Genetic defects in the ASL gene result in the autosomal recessive disorder argininosuccinic aciduria. This disorder has considerable clinical and genetic heterogeneity and also exhibits extensive intragenic complementation. ...This review describes the structure and …
Genetic defects in the ASL gene result in the autosomal recessive disorder argininosuccinic aciduria. This disorder has consid …
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A. Nagamani SC, et al. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841516 Free PMC article. Review.
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. ...In this article, we discuss the natural history of ASA and the recent mechanistic insights from animal studies that have shown the requirement of argininosuccinate lyase
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. ...In this article, we discuss the natural
Liver involvement in urea cycle disorders: a review of the literature.
Bigot A, Tchan MC, Thoreau B, Blasco H, Maillot F. Bigot A, et al. J Inherit Metab Dis. 2017 Nov;40(6):757-769. doi: 10.1007/s10545-017-0088-5. Epub 2017 Sep 12. J Inherit Metab Dis. 2017. PMID: 28900784 Review.
Excessive glycogen storage is also a prominent histologic feature, and hypoglycemia has been reported in citrin deficiency. Hepatocarcinomas seem frequent in some UCDs, such as in citrin deficiency, and can sometimes occur in non-cirrhotic patients. UCDs may differ …
Excessive glycogen storage is also a prominent histologic feature, and hypoglycemia has been reported in citrin deficiency. Hepatocar …
37 results