Rupar CA - Search Results

1

Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.

Marwaha A, Ibrahim J, Rice T, Hamwi N, Rupar CA, Cresswell D, Prasad C, Schulze A. Marwaha A, et al. Among authors: rupar ca. JIMD Rep. 2020 Oct 1;57(1):9-14. doi: 10.1002/jmd2.12171. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473334 Free PMC article.

2

Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.

Prasad C, Rosenblatt DS, Corley K, Cairney AE, Rupar CA. Prasad C, et al. Among authors: rupar ca. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S287-92. doi: 10.1007/s10545-008-0864-3. Epub 2008 Oct 29. J Inherit Metab Dis. 2008. PMID: 18956254

3

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Siu VM, et al. Among authors: rupar ca. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373. Am J Med Genet A. 2010. PMID: 20583149

4

Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.

Bock DE, Rupar CA, Prasad C. Bock DE, et al. Among authors: rupar ca. Acta Paediatr. 2011 Sep;100(9):e130-2. doi: 10.1111/j.1651-2227.2011.02208.x. Epub 2011 Mar 15. Acta Paediatr. 2011. PMID: 21352356

5

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Prasad AN, Rupar CA, Prasad C. Prasad AN, et al. Among authors: rupar ca. Brain Dev. 2011 Oct;33(9):758-69. doi: 10.1016/j.braindev.2011.05.014. Epub 2011 Jul 22. Brain Dev. 2011. PMID: 21778025 Review.

6

Menkes disease and infantile epilepsy.

Prasad AN, Levin S, Rupar CA, Prasad C. Prasad AN, et al. Among authors: rupar ca. Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Brain Dev. 2011. PMID: 21924848 Review.

7

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

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

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J. Prasad C, et al. Among authors: rupar ca. Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31. Mol Genet Metab. 2013. PMID: 23375728

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