Publications by authors named "Tony Rupar"

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New Diagnosis of Ornithine Transcarbamylase Deficiency in a 71-Year-Old Man.
Saud Daghreeri, Karen J Bosma, Robert Hammond, Tony Rupar, Victor Pope

Can J Neurol Sci· February 2025

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Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Rauan Kaiyrzhanov, Kyle Thompson, Stephanie Efthymiou, Askhat Mukushev, Akbota Zharylkassyn, Tony Rupar

Brain Commun· December 2024

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Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.
Michael A Levy, Jennifer Kerkhof, Frances R Belmonte, Brett A Kaufman, Pratibha Bhai, Tony Rupar

Am J Med Genet A· February 2021

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Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).
Eugenio Zapata-Aldana, Hugh J McMillan, Tony Rupar, Catherine Brunel-Guitton, Pranesh Chakraborty

Paediatr Child Health· July 2019

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Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience.
Zuhal K Yildirim, Ebba Nexo, Tony Rupar, Mustafa Büyükavci

J Pediatr Hematol Oncol· January 2017

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Transcobalamin II Deficiency in Four Cases with Novel Mutations.
Şule Ünal, Tony Rupar, Sevgi Yetgin, Neşe Yaralı, Ali Dursun

Turk J Haematol· December 2015

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Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells.
Hongbin Xu, Kessiri Kongmanas, Suraj Kadunganattil, Charles E Smith, Tony Rupar

J Lipid Res· December 2011

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Pyruvate dehydrogenase deficiency and epilepsy.
Chitra Prasad, Tony Rupar, Asuri N Prasad

Brain Dev· November 2011

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Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Osama Y Al-Dirbashi, Stefan Kölker, Dione Ng, Lawrence Fisher, Tony Rupar

J Inherit Metab Dis· February 2011

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Transcobalamin II deficiency at birth.
Rene Ratschmann, Milen Minkov, Ana Kis, Christina Hung, Tony Rupar

Mol Genet Metab· November 2009

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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.
Isabelle R Miousse, David Watkins, David Coelho, Tony Rupar, Eric A Crombez

J Pediatr· April 2009

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Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Derrick R Randall, Karen E Colobong, Harmony Hemmelgarn, Graham B Sinclair, Elly Hetty, Tony Rupar

Mol Genet Metab· August 2008

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Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.
Gabriella A Horvath, Sylvia G Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, Yolanda P Lillquist, Mary Connolly, Tony Rupar

Mol Genet Metab· May 2008

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Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes.
Alexander Wu, Araya Anupriwan, Sitthichai Iamsaard, Krittalak Chakrabandhu, Daniela Costa Santos, Tony Rupar

J Cell Physiol· October 2007

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