Works by Chang, Irene J.


Results: 18
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    Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 326, doi. 10.1002/jimd.12595
    By:
    • Dang Do, An N.;
    • Chang, Irene J.;
    • Jiang, Xutian;
    • Wolfe, Lynne A.;
    • Ng, Bobby G.;
    • Lam, Christina;
    • Schnur, Rhonda E.;
    • Allis, Katrina;
    • Hansikova, Hana;
    • Ondruskova, Nina;
    • O'Connor, Shawn D.;
    • Sanchez‐Valle, Amarilis;
    • Vollo, Arve;
    • Wang, Raymond Y.;
    • Wolfenson, Zoe;
    • Perreault, John;
    • Ory, Daniel S.;
    • Freeze, Hudson H.;
    • Merritt, J. Lawrence;
    • Porter, Forbes D.
    Publication type:
    Article
    4

    Factor VIII and vWF deficiency in STT3A‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 325, doi. 10.1002/jimd.12021
    By:
    • Chang, Irene J.;
    • Byers, Heather M.;
    • Ng, Bobby G.;
    • Merritt, John Lawrence;
    • Gilmore, Reid;
    • Shrimal, Shiteshu;
    • Wei, Wei;
    • Zhang, Yuan;
    • Blair, Amanda B.;
    • Freeze, Hudson H.;
    • Zhang, Bin;
    • Lam, Christina
    Publication type:
    Article
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    Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 213, doi. 10.1002/ajmg.a.61914
    By:
    • Poskanzer, Sheri A.;
    • Schultz, Matthew J.;
    • Turgeon, Coleman T.;
    • Vidal‐Folch, Noemi;
    • Liedtke, Kris;
    • Oglesbee, Devin;
    • Gavrilov, Dimitar K.;
    • Tortorelli, Silvia;
    • Matern, Dietrich;
    • Rinaldo, Piero;
    • Bennett, James T.;
    • Thies, Jenny M.;
    • Chang, Irene J.;
    • Beck, Anita E.;
    • Raymond, Kimiyo;
    • Allenspach, Eric J.;
    • Lam, Christina
    Publication type:
    Article
    9

    Cover Image, Volume 176A, Number 7, July 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. i, doi. 10.1002/ajmg.a.40365
    By:
    • Chang, Irene J.;
    • Sun, Angela;
    • Bouchard, Maryse L.;
    • Kamps, Shawn E.;
    • Hale, Susan;
    • Done, Stephen;
    • Goldberg, Michael J.;
    • Glass, Ian A.
    Publication type:
    Article
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    Novel pregnancy-triggered episodes of CAPOS syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 235, doi. 10.1002/ajmg.a.38502
    By:
    • Chang, Irene J.;
    • Adam, Margaret P.;
    • Jayadev, Suman;
    • Bird, Thomas D.;
    • Natarajan, Niranjana;
    • Glass, Ian A.
    Publication type:
    Article
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    The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 67, doi. 10.1002/jmd2.12217
    By:
    • Guenzel, Adam J.;
    • Hall, Patricia L.;
    • Scott, Anna I.;
    • Lam, Christina;
    • Chang, Irene J.;
    • Thies, Jenny;
    • Ferreira, Carlos R.;
    • Pichurin, Pavel;
    • Laxen, William;
    • Raymond, Kimiyo;
    • Gavrilov, Dimitar K.;
    • Oglesbee, Devin;
    • Rinaldo, Piero;
    • Matern, Dietrich;
    • Tortorelli, Silvia
    Publication type:
    Article
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