Stockler-Ipsiroglu S - Search Results

1

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Apatean D, Rakic B, Brunel-Guitton C, Hendson G, Bai R, Sargent MA, Lavoie PM, Patel M, Stockler-Ipsiroglu S. Apatean D, et al. Mol Genet Metab Rep. 2019 Jan 18;18:32-38. doi: 10.1016/j.ymgmr.2018.12.006. eCollection 2019 Mar. Mol Genet Metab Rep. 2019. PMID: 30723688 Free PMC article.

2

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Apatean D, Rakic B, Brunel-Guitton C, Hendson G, Bai R, Sargent MA, Lavoie PM, Patel M, Stockler-Ipsiroglu S. Apatean D, et al. Mol Genet Metab Rep. 2019 Apr 30;19:100472. doi: 10.1016/j.ymgmr.2019.100472. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 31065540 Free PMC article.

3

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Brunel-Guitton C, Casey B, Coulter-Mackie M, Vallance H, Hewes D, Stockler-Ipsiroglu S, Mercimek-Mahmutoglu S. Brunel-Guitton C, et al. Mol Genet Metab. 2011 Jun;103(2):193-6. doi: 10.1016/j.ymgme.2011.02.009. Epub 2011 Feb 22. Mol Genet Metab. 2011. PMID: 21411353

4

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Dunbar M, et al. Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Mol Genet Metab. 2014. PMID: 24953403 Review.

5

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.

Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Stockler-Ipsiroglu S, et al. Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3. Mol Genet Metab. 2015. PMID: 25497838 Free article.

6

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Stockler-Ipsiroglu S, et al. Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17. Mol Genet Metab. 2015. PMID: 26490222 Free article.

7

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Wong LJ, Wang J, Stöckler-Ipsiroglu S. Van Karnebeek CD, et al. Dev Med Child Neurol. 2011 Jun;53(6):565-8. doi: 10.1111/j.1469-8749.2010.03907.x. Epub 2011 Apr 19. Dev Med Child Neurol. 2011. PMID: 21518340 Free article.

8

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Mercimek-Mahmutoglu S, et al. Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23. Pediatrics. 2012. PMID: 22529283

9

Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

Vallance H, Sinclair G, Rakic B, Stockler-Ipsiroglu S. Vallance H, et al. Among authors: stockler ipsiroglu s. Paediatr Child Health. 2020 Dec 19;26(6):344-348. doi: 10.1093/pch/pxaa112. eCollection 2021 Oct. Paediatr Child Health. 2020. PMID: 34676012 Free PMC article.

10

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.

Jaggumantri S, Dunbar M, Edgar V, Mignone C, Newlove T, Elango R, Collet JP, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Jaggumantri S, et al. Pediatr Neurol. 2015 Oct;53(4):360-363.e2. doi: 10.1016/j.pediatrneurol.2015.05.006. Epub 2015 May 16. Pediatr Neurol. 2015. PMID: 26205312

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