Works by Chan, Alicia


Results: 29
    1

    MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
    By:
    • Spinazzola, Antonella;
    • Viscomi, Carlo;
    • Fernandez-Vizarra, Erika;
    • Carrara, Franco;
    • D'Adamo, Pio;
    • Calvo, Sarah;
    • Marsano, René Massimiliano;
    • Donnini, Claudia;
    • Weiher, Hans;
    • Strisciuglio, Pietro;
    • Parini, Rossella;
    • Sarzi, Emmanuelle;
    • Chan, Alicia;
    • DiMauro, Salvatore;
    • Rötig, Agnes;
    • Gasparini, Paolo;
    • Ferrero, Iliana;
    • Mootha, Vamsi K.;
    • Tiranti, Valeria;
    • Zeviani, Massimo
    Publication type:
    Article
    2
    3

    Mitochondriome and Cholangiocellular Carcinoma.

    Published in:
    PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104694
    By:
    • Bahitham, Wesam;
    • Liao, Xiaoping;
    • Peng, Fred;
    • Bamforth, Fiona;
    • Chan, Alicia;
    • Mason, Andrew;
    • Stone, Bradley;
    • Stothard, Paul;
    • Sergi, Consolato
    Publication type:
    Article
    4
    5
    6
    7
    8
    9

    Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 510, doi. 10.1002/ajmg.a.63053
    By:
    • Mainali, Apurba;
    • Athey, Taryn;
    • Bahl, Shalini;
    • Hung, Clara;
    • Caluseriu, Oana;
    • Chan, Alicia;
    • Eaton, Alison;
    • Ghai, Shailly Jain;
    • Kannu, Peter;
    • MacPherson, Melissa;
    • Niederhoffer, Karen Y.;
    • Siriwardena, Komudi;
    • Mercimek‐Andrews, Saadet
    Publication type:
    Article
    10
    11

    Coronary artery disease in women.

    Published in:
    Australian Prescriber, 2022, v. 45, n. 6, p. 193, doi. 10.18773/austprescr.2022.065
    By:
    • Montarello, Natalie;
    • Wai Ping (Alicia) Chan
    Publication type:
    Article
    12
    13
    14
    15

    Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 43, doi. 10.1002/jmd2.12095
    By:
    • Jain‐Ghai, Shailly;
    • Joffe, Ari R.;
    • Bond, Gwen Y.;
    • Siriwardena, Komudi;
    • Chan, Alicia;
    • Yap, Jason Y. K.;
    • Hajihosseini, Morteza;
    • Dinu, Irina A.;
    • Acton, Bryan V.;
    • Robertson, Charlene M. T.
    Publication type:
    Article
    16
    17

    Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

    Published in:
    2020
    By:
    • Tingley, Kylie;
    • Lamoureux, Monica;
    • Pugliese, Michael;
    • Geraghty, Michael T.;
    • Kronick, Jonathan B.;
    • Potter, Beth K.;
    • Coyle, Doug;
    • Wilson, Kumanan;
    • Kowalski, Michael;
    • Austin, Valerie;
    • Brunel-Guitton, Catherine;
    • Buhas, Daniela;
    • Chan, Alicia K. J.;
    • Dyack, Sarah;
    • Feigenbaum, Annette;
    • Giezen, Alette;
    • Goobie, Sharan;
    • Greenberg, Cheryl R.;
    • Ghai, Shailly Jain;
    • Inbar-Feigenberg, Michal
    Publication type:
    journal article
    18

    Genetic and Clinical Heterogeneity in eIF2B-Related Disorder.

    Published in:
    Journal of Child Neurology, 2008, v. 23, n. 2, p. 205, doi. 10.1177/0883073807308705
    By:
    • Maletkovic, Jelena;
    • Schiffmann, Raphael;
    • Gorospe, J. Rafael;
    • Gordon, Erynn S.;
    • Mintz, Michelle;
    • Hoffman, Eric P.;
    • Alper, Gulay;
    • Lynch, David R.;
    • Singhal, Bhim S.;
    • Harding, Gary;
    • Amartino, Hernan;
    • Brown, Candida M.;
    • Chan, Alicia;
    • Renaud, Deborah;
    • Geraghty, Michael;
    • Jensen, Lloyd;
    • Senbil, Nesrin;
    • Kadom, Nadja;
    • Nazarian, Javad;
    • Yuanjian Feng
    Publication type:
    Article
    19
    20

    Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    corrected article
    21

    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    Literature Review
    22

    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    journal article
    23

    Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

    Published in:
    BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
    By:
    • Iverson, Ryan;
    • Taljaard, Monica;
    • Geraghty, Michael T.;
    • Pugliese, Michael;
    • Tingley, Kylie;
    • Coyle, Doug;
    • Kronick, Jonathan B.;
    • Wilson, Kumanan;
    • Austin, Valerie;
    • Brunel-Guitton, Catherine;
    • Buhas, Daniela;
    • Butcher, Nancy J.;
    • Chan, Alicia K. J.;
    • Dyack, Sarah;
    • Goobie, Sharan;
    • Greenberg, Cheryl R.;
    • Jain-Ghai, Shailly;
    • Inbar-Feigenberg, Michal;
    • Karp, Natalya;
    • Kozenko, Mariya
    Publication type:
    Article
    24
    25
    26

    Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Smith, Maureen;
    • Offringa, Martin;
    • Butcher, Nancy J.;
    • Campeau, Philippe M.;
    • Chakraborty, Pranesh;
    • Chan, Alicia;
    • Fergusson, Dean;
    • Mamak, Eva;
    • McClelland, Peyton;
    • Mercimek-Andrews, Saadet;
    • Mhanni, Aizeddin;
    • Moazin, Zeinab;
    • Rockman-Greenberg, Cheryl;
    • Rupar, C. Anthony
    Publication type:
    Article
    27

    Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.

    Published in:
    American Journal of Hematology, 2021, v. 96, n. 5, p. 545, doi. 10.1002/ajh.26131
    By:
    • Istaiti, Majdolen;
    • Revel‐Vilk, Shoshana;
    • Becker‐Cohen, Michal;
    • Dinur, Tama;
    • Ramaswami, Uma;
    • Castillo‐Garcia, Daniela;
    • Ceron‐Rodriguez, Magdalena;
    • Chan, Alicia;
    • Rodic, Predrag;
    • Tincheva, Radka Stefanova;
    • Al‐Hertani, Walla;
    • Lee, Beom Hee;
    • Yang, Chia‐Feng;
    • Kiec‐Wilk, Beata;
    • Fiumara, Agata;
    • Rubio, Barbara;
    • Zimran, Ari
    Publication type:
    Article
    28
    29