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Items: 13

1.

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C.

Paediatr Child Health. 2019 Jul;24(4):270-271. doi: 10.1093/pch/pxy153. Epub 2019 May 8. No abstract available.

PMID:
31239817
2.

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

Yildirim ZK, Nexo E, Rupar T, Büyükavci M.

J Pediatr Hematol Oncol. 2017 Jan;39(1):38-41.

PMID:
27824740
3.

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Ünal Ş, Rupar T, Yetgin S, Yaralı N, Dursun A, Gürsel T, Çetin M.

Turk J Haematol. 2015 Dec;32(4):317-22. doi: 10.4274/tjh.2014.0154. Epub 2015 Apr 27.

4.

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.

J Lipid Res. 2011 Dec;52(12):2187-97. doi: 10.1194/jlr.M019661. Epub 2011 Oct 2.

5.

Pyruvate dehydrogenase deficiency and epilepsy.

Prasad C, Rupar T, Prasad AN.

Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Review.

PMID:
21908116
6.

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.

Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P.

J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27.

PMID:
20978942
7.

Transcobalamin II deficiency at birth.

Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA.

Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6.

PMID:
19581117
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.

J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.

PMID:
19058814
9.

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.

Mol Genet Metab. 2008 Aug;94(4):456-61. doi: 10.1016/j.ymgme.2008.05.001. Epub 2008 Jun 3.

PMID:
18511319
10.

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.

Mol Genet Metab. 2008 May;94(1):127-31. doi: 10.1016/j.ymgme.2008.01.003. Epub 2008 Feb 13.

PMID:
18276179
11.

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.

Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4.

PMID:
18164639
12.

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.

Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

PMID:
18078773
13.

Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes.

Wu A, Anupriwan A, Iamsaard S, Chakrabandhu K, Santos DC, Rupar T, Tsang BK, Carmona E, Tanphaichitr N.

J Cell Physiol. 2007 Oct;213(1):201-11.

PMID:
17474085

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