Pyruvate dehydrogenase deficiency and epilepsy
Prasad, Chitra, Rupar, Tony, Prasad, Asuri N
Published in Brain & development (Tokyo. 1979) (01.11.2011)
Published in Brain & development (Tokyo. 1979) (01.11.2011)
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Journal Article
Arylsulfatase A deficiency causes seminolipid accumulation and a lysosomal storage disorder in Sertoli cells
Xu, Hongbin, Kongmanas, Kessiri, Kadunganattil, Suraj, Smith, Charles E., Rupar, Tony, Goto-Inoue, Naoko, Hermo, Louis, Faull, Kym F., Tanphaichitr, Nongnuj
Published in Journal of lipid research (01.12.2011)
Published in Journal of lipid research (01.12.2011)
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Journal Article
Transcobalamin II Deficiency in Four Cases with Novel Mutations
Ünal, Şule, Rupar, Tony, Yetgin, Sevgi, Yaralı, Neşe, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Published in Turkish journal of haematology (01.12.2015)
Published in Turkish journal of haematology (01.12.2015)
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Journal Article
Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism
Miousse, Isabelle R., BSc, Watkins, David, PhD, Coelho, David, PhD, Rupar, Tony, PhD, Crombez, Eric A., MD, Vilain, Eric, MD, Bernstein, Jonathan A., MD, PhD, Cowan, Tina, PhD, Lee-Messer, Christopher, MD, PhD, Enns, Gregory M., MB, ChB, Fowler, Brian, PhD, Rosenblatt, David S., MD
Published in The Journal of pediatrics (01.04.2009)
Published in The Journal of pediatrics (01.04.2009)
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Journal Article
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Al-Dirbashi, Osama Y, Kölker, Stefan, Ng, Dione, Fisher, Lawrence, Rupar, Tony, Lepage, Nathalie, Rashed, Mohamed S, Santa, Tomofumi, Goodman, Stephen I, Geraghty, Michael T, Zschocke, Johannes, Christensen, Ernst, Hoffmann, Georg F, Chakraborty, Pranesh
Published in Journal of inherited metabolic disease (01.02.2011)
Published in Journal of inherited metabolic disease (01.02.2011)
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Journal Article
Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C
Tarnopolsky, Mark, Rupar, Tony, Nazli, Aisha, Safdar, Adeel
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Exosome-mRNA therapy for Gaucher disease
Tarnopolsky, Mark, Rupar, Tony, Rip, Jack, Nazli, Aisha, Safdar, Adeel
Published in Molecular genetics and metabolism (01.02.2016)
Published in Molecular genetics and metabolism (01.02.2016)
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Journal Article
Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshop
Howie, Alison H., Wyatt, Alexandra, Inbar-Feigenberg, Michal, Mitchell, John J., Smith, Maureen, Angel, Kim, Gentle, Jenifer, Butcher, Nancy J., Offringa, Martin, Campeau, Philippe M., Chan, Alicia K., Chakraborty, Pranesh, Chow, Andrea, El Turk, Farah, Greenberg, Cheryl R., Mamak, Eva, Mhanni, Aziz, Rupar, Tony, Sparkes, Rebecca, Thavorn, Kednapa, Tingley, Kylie, Potter, Beth K.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population
Levy, Michael A, Kerkhof, Jennifer, Belmonte, Frances R., Kaufman, Brett A., Bhai, Pratibha, Brady, Lauren, Bursztyn, Lulu L.C.D., Tarnopolsky, Mark, Rupar, Tony, Sadikovic, Bekim
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
AMBROXOL AS PHARMACOLOGICAL CHAPERONE TARGETING GBA1 AS A DISEASE MODIFYING TREATMENT FOR PARKINSON’S DISEASE DEMENTIA: A PHASE 2 RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL
Pasternak, Stephen H., Silveira, Carolina, Li, Zhonghan, Bartha, Robert, Borrie, Michael, Wells, Jennie, MacDonald, Penny, Zou, Guangyoug, Jenkins, Mary, Finger, Elizabeth, Jog, Mandar, Rupar, Tony, Tirona, Rommel
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
P1‐067: AMBROXOL AS PHARMACOLOGICAL CHAPERONE TARGETING GBA1 AS A DISEASE MODIFYING TREATMENT FOR PARKINSON'S DISEASE DEMENTIA: A PHASE 2 RANDOMIZED, DOUBLE‐BLIND, PLACEBO‐CONTROLLED TRIAL
Pasternak, Stephen H., Silveira, Carolina, Li, Zhonghan, Bartha, Robert, Borrie, Michael, Wells, Jennie, MacDonald, Penny, Zou, Guangyoug, Jenkins, Mary, Finger, Elizabeth, Jog, Mandar, Rupar, Tony, Tirona, Rommel
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
Muscle problems in juvenile-onset acid maltase deficiency
Zapata-Aldana, Eugenio, McMillan, Hugh J, Rupar, Tony, Brunei-Guitton, Catherine, Chakraborty, Pranesh, Mitchell, John J, Roth, Johannes, Tarnopolsky, Mark A, Turner, Lesley, Campbell, Craig
Published in Paediatrics & child health (01.07.2019)
Published in Paediatrics & child health (01.07.2019)
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Journal Article
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Zapata-Aldana, Eugenio, McMillan, Hugh J, Rupar, Tony, Brunel-Guitton, Catherine, Chakraborty, Pranesh, Mitchell, John J, Roth, Johannes, Tarnopolsky, Mark A, Turner, Lesley, Campbell, Craig
Published in Paediatrics & child health (01.07.2019)
Published in Paediatrics & child health (01.07.2019)
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Journal Article
Transcobalamin II Deficiency in Four Cases with Novel Mutations/ Yeni Mutasyonu Olan Dört Transkobalamin II Eksikligi Olgusu
Ünal, Sule, Rupar, Tony, Yetgin, Sevgi, Yarali, Nese, Dursun, Ali, Gürsel, Türkiz, Çetin, Mualla
Published in Turkish journal of haematology (01.12.2015)
Published in Turkish journal of haematology (01.12.2015)
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Journal Article
Transcobalamin II deficiency at birth
Ratschmann, Rene, Minkov, Milen, Kis, Ana, Hung, Christina, Rupar, Tony, Mühl, Adolf, Fowler, Brian, Nexo, Ebba, Bodamer, Olaf A.
Published in Molecular genetics and metabolism (01.11.2009)
Published in Molecular genetics and metabolism (01.11.2009)
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Journal Article
Heparin cofactor II–thrombin complex: A biomarker of MPS disease
Randall, Derrick R., Colobong, Karen E., Hemmelgarn, Harmony, Sinclair, Graham B., Hetty, Elly, Thomas, Anita, Bodamer, Olaf A., Volkmar, Barbara, Fernhoff, Paul M., Casey, Robin, Chan, Alicia K., Mitchell, Grant, Stockler, Silvia, Melancon, Serge, Rupar, Tony, Clarke, Lorne A.
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article
Sperm surface arylsulfatase A can disperse the cumulus matrix of cumulus oocyte complexes
Wu, Alexander, Anupriwan, Araya, Iamsaard, Sitthichai, Chakrabandhu, Krittalak, Santos, Daniela Costa, Rupar, Tony, Tsang, Benjamin K., Carmona, Euridice, Tanphaichitr, Nongnuj
Published in Journal of cellular physiology (01.10.2007)
Published in Journal of cellular physiology (01.10.2007)
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