Rupar CA - Search Results

1

Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid.

Thakur V, Rupar CA, Ramsay DA, Singh R, Fraser DD. Thakur V, et al. Among authors: rupar ca. Pediatr Crit Care Med. 2006 May;7(3):273-6. doi: 10.1097/01.PCC.0000216682.56067.23. Pediatr Crit Care Med. 2006. PMID: 16575347

2

Isolated sulfite oxidase deficiency.

Rupar CA, Gillett J, Gordon BA, Ramsay DA, Johnson JL, Garrett RM, Rajagopalan KV, Jung JH, Bacheyie GS, Sellers AR. Rupar CA, et al. Neuropediatrics. 1996 Dec;27(6):299-304. doi: 10.1055/s-2007-973798. Neuropediatrics. 1996. PMID: 9050047

3

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.

Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA. Lahiry P, et al. Among authors: rupar ca. Am J Hum Genet. 2009 Feb;84(2):134-47. doi: 10.1016/j.ajhg.2008.12.017. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185282 Free PMC article.

4

Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders.

Iyer H, Sen M, Prasad C, Rupar CA, Lindsay RM. Iyer H, et al. Among authors: rupar ca. Hemodial Int. 2012 Jan;16(1):95-100. doi: 10.1111/j.1542-4758.2011.00591.x. Hemodial Int. 2012. PMID: 22099885

5

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency.

Farhan SM, Wang J, Robinson JF, Lahiry P, Siu VM, Prasad C, Kronick JB, Ramsay DA, Rupar CA, Hegele RA. Farhan SM, et al. Among authors: rupar ca. Mol Genet Genomic Med. 2014 Jan;2(1):73-80. doi: 10.1002/mgg3.46. Epub 2013 Nov 18. Mol Genet Genomic Med. 2014. PMID: 24498631 Free PMC article.

6

Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.

Prasad C, Rupar CA, Campbell C, Napier M, Ramsay D, Tay KY, Sharan S, Prasad AN. Prasad C, et al. Among authors: rupar ca. Can J Neurol Sci. 2014 Sep;41(5):626-31. doi: 10.1017/cjn.2014.12. Can J Neurol Sci. 2014. PMID: 25373814

7

Simulated diabetic ketoacidosis therapy in vitro elicits brain cell swelling via sodium-hydrogen exchange and anion transport.

Rose KL, Watson AJ, Drysdale TA, Cepinskas G, Chan M, Rupar CA, Fraser DD. Rose KL, et al. Among authors: rupar ca. Am J Physiol Endocrinol Metab. 2015 Aug 15;309(4):E370-9. doi: 10.1152/ajpendo.00107.2015. Epub 2015 Jun 16. Am J Physiol Endocrinol Metab. 2015. PMID: 26081282 Free article.

8

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.

Prasad C, Salvadori MI, Rupar CA. Prasad C, et al. Among authors: rupar ca. Mol Genet Metab. 2012 Dec;107(4):756-9. doi: 10.1016/j.ymgme.2012.10.019. Epub 2012 Oct 24. Mol Genet Metab. 2012. PMID: 23146290

9

Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Cartagena A, Prasad AN, Rupar CA, Strong M, Tuchman M, Ah Mew N, Prasad C. Cartagena A, et al. Among authors: rupar ca. Can J Neurol Sci. 2013 Jan;40(1):3-9. doi: 10.1017/s0317167100012877. Can J Neurol Sci. 2013. PMID: 23250120 Free PMC article. Review.

10

MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C. Prasad M, et al. Among authors: rupar ca. Can J Neurol Sci. 2014 Mar;41(2):210-9. doi: 10.1017/s0317167100016607. Can J Neurol Sci. 2014. PMID: 24534033

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