Rupar T - Search Results

1

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.

Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Horvath GA, et al. Among authors: rupar t. Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13. Mol Genet Metab. 2008. PMID: 18276179

2

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Randall DR, Colobong KE, Hemmelgarn H, Sinclair GB, Hetty E, Thomas A, Bodamer OA, Volkmar B, Fernhoff PM, Casey R, Chan AK, Mitchell G, Stockler S, Melancon S, Rupar T, Clarke LA. Randall DR, et al. Among authors: rupar t. Mol Genet Metab. 2008 Aug;94(4):456-461. doi: 10.1016/j.ymgme.2008.05.001. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18511319

3

Transcobalamin II deficiency at birth.

Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Ratschmann R, et al. Among authors: rupar t. Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6. Mol Genet Metab. 2009. PMID: 19581117

4

Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.

Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Okajima K, et al. Among authors: rupar t. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18164639

5

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: rupar t. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

6

Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience.

Yildirim ZK, Nexo E, Rupar T, Büyükavci M. Yildirim ZK, et al. Among authors: rupar t. J Pediatr Hematol Oncol. 2017 Jan;39(1):38-41. doi: 10.1097/MPH.0000000000000685. J Pediatr Hematol Oncol. 2017. PMID: 27824740

7

Pyruvate dehydrogenase deficiency and epilepsy.

Prasad C, Rupar T, Prasad AN. Prasad C, et al. Among authors: rupar t. Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Brain Dev. 2011. PMID: 21908116 Review.

8

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Miousse IR, et al. Among authors: rupar t. J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5. J Pediatr. 2009. PMID: 19058814

9

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Ünal Ş, Rupar T, Yetgin S, Yaralı N, Dursun A, Gürsel T, Çetin M. Ünal Ş, et al. Among authors: rupar t. Turk J Haematol. 2015 Dec;32(4):317-22. doi: 10.4274/tjh.2014.0154. Epub 2015 Apr 27. Turk J Haematol. 2015. PMID: 25914105 Free PMC article.

10

Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.

Xu H, Kongmanas K, Kadunganattil S, Smith CE, Rupar T, Goto-Inoue N, Hermo L, Faull KF, Tanphaichitr N. Xu H, et al. Among authors: rupar t. J Lipid Res. 2011 Dec;52(12):2187-2197. doi: 10.1194/jlr.M019661. Epub 2011 Oct 2. J Lipid Res. 2011. PMID: 21965315 Free PMC article.

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