162 related articles for article (PubMed ID: 34569752)
1. [Aciduria argininosuccínica: informe de un caso de inicio neonatal].
P Zuza M; Gerbaudo G; O Molina S; Pereyra M
Arch Argent Pediatr; 2021 Oct; 119(5):e508-e512. PubMed ID: 34569752
[TBL] [Abstract][Full Text] [Related]
2. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
Erez A; Nagamani SC; Lee B
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):45-53. PubMed ID: 21312326
[TBL] [Abstract][Full Text] [Related]
3. Argininosuccinate lyase deficiency.
Nagamani SC; Erez A; Lee B
Genet Med; 2012 May; 14(5):501-7. PubMed ID: 22241104
[TBL] [Abstract][Full Text] [Related]
4. The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism.
Wiwattanadittakul N; Prust M; Gaillard WD; Massaro A; Vezina G; Tsuchida TN; Gropman AL
Mol Genet Metab; 2018 Nov; 125(3):235-240. PubMed ID: 30197275
[TBL] [Abstract][Full Text] [Related]
5. Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.
Chen BC; Ngu LH; Zabedah MY
Malays J Pathol; 2010 Dec; 32(2):87-95. PubMed ID: 21329179
[TBL] [Abstract][Full Text] [Related]
6. The incidence of urea cycle disorders.
Summar ML; Koelker S; Freedenberg D; Le Mons C; Haberle J; Lee HS; Kirmse B; ;
Mol Genet Metab; 2013; 110(1-2):179-80. PubMed ID: 23972786
[TBL] [Abstract][Full Text] [Related]
7. Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry.
Stadler S; Gempel K; Bieger I; Pontz BF; Gerbitz KD; Bauer MF; Hofmann S
J Inherit Metab Dis; 2001 Jun; 24(3):370-8. PubMed ID: 11486903
[TBL] [Abstract][Full Text] [Related]
8. 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
Epilepsia; 2023 Jun; 64(6):1612-1626. PubMed ID: 36994644
[TBL] [Abstract][Full Text] [Related]
9. [Neonatal hyperammonemia].
Jaeken J; Devlieger H; Evens M; Casaer P; Eggermont E
Tijdschr Kindergeneeskd; 1983 Jun; 51(3):101-4. PubMed ID: 6636106
[TBL] [Abstract][Full Text] [Related]
10. Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.
Osawa Y; Wada A; Ohtsu Y; Yamada K; Takizawa T
Mol Genet Metab Rep; 2020 Sep; 24():100605. PubMed ID: 32435591
[TBL] [Abstract][Full Text] [Related]
11. Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.
Silvera-Ruiz SM; Arranz JA; Häberle J; Angaroni CJ; Bezard M; Guelbert N; Becerra A; Peralta F; de Kremer RD; Laróvere LE
Orphanet J Rare Dis; 2019 Aug; 14(1):203. PubMed ID: 31426867
[TBL] [Abstract][Full Text] [Related]
12. A mouse model of argininosuccinic aciduria: biochemical characterization.
Reid Sutton V; Pan Y; Davis EC; Craigen WJ
Mol Genet Metab; 2003 Jan; 78(1):11-6. PubMed ID: 12559843
[TBL] [Abstract][Full Text] [Related]
13. 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
J Inherit Metab Dis; 2019 Nov; 42(6):1147-1161. PubMed ID: 30723942
[TBL] [Abstract][Full Text] [Related]
14. Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
Glick NR; Snodgrass PJ; Schafer IA
Am J Hum Genet; 1976 Jan; 28(1):22-30. PubMed ID: 174426
[TBL] [Abstract][Full Text] [Related]
15. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders.
Talbot HW; Sumlin AB; Naylor EW; Guthrie R
Pediatrics; 1982 Oct; 70(4):526-31. PubMed ID: 7122151
[TBL] [Abstract][Full Text] [Related]
16. [Genetic diagnosis of a Chinese pedigree affected with neonatal argininosuccinic aciduria].
Li W; Li H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):926-929. PubMed ID: 31515792
[TBL] [Abstract][Full Text] [Related]
17. Prospective treatment of urea cycle disorders.
Maestri NE; Hauser ER; Bartholomew D; Brusilow SW
J Pediatr; 1991 Dec; 119(6):923-8. PubMed ID: 1720458
[TBL] [Abstract][Full Text] [Related]
18. [Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Liu YP; Ma YY; Wu TF; Wang Q; Li XY; Ding Y; Song JQ; Huang Y; Yang YL
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):410-4. PubMed ID: 22931934
[TBL] [Abstract][Full Text] [Related]
19. Pregnancy and argininosuccinic aciduria.
Worthington S; Christodoulou J; Wilcken B; Peat B
J Inherit Metab Dis; 1996; 19(5):621-3. PubMed ID: 8892017
[TBL] [Abstract][Full Text] [Related]
20. Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA).
Beck NM; Johnston JP; Lemke KS; Pogacar P; Phornphutkul C
Med Health R I; 2011 May; 94(5):121-3. PubMed ID: 21710918
[No Abstract] [Full Text] [Related]
[Next] [New Search]
