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2001 6
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2003 2
2004 3
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2006 9
2007 6
2008 8
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2011 10
2012 10
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328 results

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Page 1
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 …
Argininosuccinic aciduria: from a monogenic to a complex disorder.
Erez A. Erez A. Genet Med. 2013 Apr;15(4):251-7. doi: 10.1038/gim.2012.166. Epub 2013 Jan 10. Genet Med. 2013. PMID: 23306800 Free article. Review.
This article discusses several possible contributors to the unique, complex phenotypes observed in inherited metabolic disorders, using argininosuccinic aciduria as a disease model.Genet Med 2013:15(4):251-257....
This article discusses several possible contributors to the unique, complex phenotypes observed in inherited metabolic disorders, using a …
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 spite of a lower risk for recurrent hyperammonemic episodes as compared to the proximal disorders of ureagenesis, subjects with ASA are at risk for long-term complications includin …
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. In spite of a lower risk for recurrent hype …
[Aciduria, argininosuccinic].
Matsuura T. Matsuura T. Ryoikibetsu Shokogun Shirizu. 2001;(33):103-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462352 Review. Japanese. No abstract available.
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.
Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourth reaction in the cycle and the first degradative step, that is, the breakdown of argininosuccinic acid to arginine and fumarate. Deficiency of ASL results in an accumulation of argininosuccini …
Argininosuccinate lyase (ASL) is a cytosolic enzyme which catalyzes the fourth reaction in the cycle and the first degradative step, that is …
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Patients with ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease with hyperammonemia and a systemic phenotype coinciding with neurocognitive impairment and chronic liver disease. ...These findings provide mechanistic insights in li …
Patients with ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease with hyperammonemia and a …
Argininosuccinic aciduria.
Cederbaum SD, Shaw KN, Valente M, Cotton ME. Cederbaum SD, et al. Am J Ment Defic. 1973 Jan;77(4):395-404. Am J Ment Defic. 1973. PMID: 4706398 No abstract available.
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.
The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Mille …
The differential of acute and recurring ataxia covered in this chapter includes intoxication (e.g., antiepileptics, lead, alcohol), postinfe …
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. METHODS: We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of …
Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. METHODS: We con …
Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.
Nagayoshi Y, Nakayama M, Nagano H, Morikawa K, Nishi M, Nishihara T, Sakaino N, Kawano H, Tsujita K, Mitsubuchi H. Nagayoshi Y, et al. Am J Cardiol. 2023 Apr 1;192:155-159. doi: 10.1016/j.amjcard.2023.01.036. Epub 2023 Feb 18. Am J Cardiol. 2023. PMID: 36807131
A 39-year-old male was referred for treatment of hypertension. He had been treated for argininosuccinic aciduria since 8 months of age. Therapeutic drugs, including l-arginine, sodium phenylbutyrate, and antiepileptic drugs, had been prescribed. ...The patient was d …
A 39-year-old male was referred for treatment of hypertension. He had been treated for argininosuccinic aciduria since 8 month …
328 results