Sargent MA - Search Results

1

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. Among authors: sargent ma. 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.

2

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

3

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.

4

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

5

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. Among authors: sargent ma. 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.

6

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. Among authors: sargent ma. 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.

7

Speech, cognition, and imaging studies in congenital ocular motor apraxia.

Jan JE, Kearney S, Groenveld M, Sargent MA, Poskitt KJ. Jan JE, et al. Among authors: sargent ma. Dev Med Child Neurol. 1998 Feb;40(2):95-9. Dev Med Child Neurol. 1998. PMID: 9489497 Free article.

8

Asynchronous burst-suppression in a child with callosal Ki-1 anaplastic large cell lymphoma.

Hukin J, Davey A, Wong P, Hendson G, Aquino-Parsons C, Wu J, Sargent M. Hukin J, et al. Neurology. 2005 Sep 27;65(6):947-9. doi: 10.1212/01.wnl.0000176070.34107.f6. Neurology. 2005. PMID: 16186544

9

MRI findings in infants with infantile spasms after neonatal hypoxic-ischemic encephalopathy.

Gano D, Sargent MA, Miller SP, Connolly MB, Wong P, Glass HC, Poskitt KJ, Chau V. Gano D, et al. Among authors: sargent ma. Pediatr Neurol. 2013 Dec;49(6):401-5. doi: 10.1016/j.pediatrneurol.2013.08.007. Epub 2013 Oct 2. Pediatr Neurol. 2013. PMID: 24095571 Free PMC article.

10

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Filges I, Sparagana S, Sargent M, Selby K, Schlade-Bartusiak K, Lueder GT, Robichaux-Viehoever A, Schlaggar BL, Shimony JS, Shinawi M. Filges I, et al. Am J Med Genet A. 2014 Aug;164A(8):2003-12. doi: 10.1002/ajmg.a.36605. Epub 2014 May 28. Am J Med Genet A. 2014. PMID: 24891046

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