Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 5

Results: 26
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    Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 969, doi. 10.1002/jimd.12266
    By:
    • Knottnerus, Suzan J. G.;
    • Bleeker, Jeannette C.;
    • Ferdinandusse, Sacha;
    • Houtkooper, Riekelt H.;
    • Langeveld, Mirjam;
    • Nederveen, Aart J.;
    • Strijkers, Gustav J.;
    • Visser, Gepke;
    • Wanders, Ronald J. A.;
    • Wijburg, Frits A.;
    • Boekholdt, S. Matthijs;
    • Bakermans, Adrianus J.
    Publication type:
    Article
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    AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
    By:
    • Pearson, Toni S.;
    • Gilbert, Laura;
    • Opladen, Thomas;
    • Garcia‐Cazorla, Angeles;
    • Mastrangelo, Mario;
    • Leuzzi, Vincenzo;
    • Tay, Stacy K. H.;
    • Sykut‐Cegielska, Jolanta;
    • Pons, Roser;
    • Mercimek‐Andrews, Saadet;
    • Kato, Mitsuhiro;
    • Lücke, Thomas;
    • Oppebøen, Mari;
    • Kurian, Manju A.;
    • Steel, Dora;
    • Manti, Filippo;
    • Meeks, Kathleen D.;
    • Jeltsch, Kathrin;
    • Flint, Lisa
    Publication type:
    Article
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    The definition of neuronopathic Gaucher disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235
    By:
    • Schiffmann, Raphael;
    • Sevigny, Jeff;
    • Rolfs, Arndt;
    • Davies, Elin Haf;
    • Goker‐Alpan, Ozlem;
    • Abdelwahab, Magy;
    • Vellodi, Ashok;
    • Mengel, Eugen;
    • Lukina, Elena;
    • Yoo, Han‐Wook;
    • Collin‐Histed, Tanya;
    • Narita, Aya;
    • Dinur, Tama;
    • Revel‐Vilk, Shoshana;
    • Arkadir, David;
    • Szer, Jeff;
    • Wajnrajch, Michael;
    • Ramaswami, Uma;
    • Sidransky, Ellen;
    • Donald, Aimee
    Publication type:
    Article
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    Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1131, doi. 10.1002/jimd.12238
    By:
    • Zhao, Piming;
    • Liu, Isaac D.;
    • Hodgin, Jeffrey B.;
    • Benke, Peter I.;
    • Selva, Jeremy;
    • Torta, Federico;
    • Wenk, Markus R.;
    • Endrizzi, James A.;
    • West, Olivia;
    • Ou, Weixing;
    • Tang, Emily;
    • Goh, Denise Li‐Meng;
    • Tay, Stacey Kiat‐Hong;
    • Yap, Hui‐Kim;
    • Loh, Alwin;
    • Weaver, Nicole;
    • Sullivan, Bonnie;
    • Larson, Austin;
    • Cooper, Megan A.;
    • Alhasan, Khalid
    Publication type:
    Article
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    RBCK1‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1002, doi. 10.1002/jimd.12234
    By:
    • Phadke, Rahul;
    • Hedberg‐Oldfors, Carola;
    • Scalco, Renata S.;
    • Lowe, David M.;
    • Ashworth, Michael;
    • Novelli, Marco;
    • Vara, Roshni;
    • Merwick, Aine;
    • Amer, Halima;
    • Sofat, Reecha;
    • Sugarman, Max;
    • Jovanovic, Ana;
    • Roberts, Mark;
    • Nakou, Vasiliki;
    • King, Andrew;
    • Bodi, Istvan;
    • Jungbluth, Heinz;
    • Oldfors, Anders;
    • Murphy, Elaine
    Publication type:
    Article
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    Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1024, doi. 10.1002/jimd.12232
    By:
    • Friederich, Marisa W.;
    • Elias, Abdallah F.;
    • Kuster, Alice;
    • Laugwitz, Lucia;
    • Larson, Austin A.;
    • Landry, Aaron P.;
    • Ellwood‐Digel, Logan;
    • Mirsky, David M.;
    • Dimmock, David;
    • Haven, Jaclyn;
    • Jiang, Hua;
    • MacLean, Kenneth N.;
    • Styren, Katie;
    • Schoof, Jonathan;
    • Goujon, Louise;
    • Lefrancois, Thomas;
    • Friederich, Maike;
    • Coughlin, Curtis R.;
    • Banerjee, Ruma;
    • Haack, Tobias B.
    Publication type:
    Article
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    Cardiometabolic risk factor clustering in patients with deficient branched‐chain amino acid catabolism: A case‐control study.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 981, doi. 10.1002/jimd.12231
    By:
    • Gancheva, Sofiya;
    • Caspari, Daria;
    • Bierwagen, Alessandra;
    • Jelenik, Tomas;
    • Caprio, Sonia;
    • Santoro, Nicola;
    • Rothe, Maik;
    • Markgraf, Daniel F.;
    • Herebian, Diran;
    • Hwang, Jong‐Hee;
    • Öner‐Sieben, Soner;
    • Mennenga, Jasmin;
    • Pacini, Giovanni;
    • Thimm, Eva;
    • Schlune, Andrea;
    • Meissner, Thomas;
    • vom Dahl, Stephan;
    • Klee, Dirk;
    • Mayatepek, Ertan;
    • Roden, Michael
    Publication type:
    Article
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    Nitisinone causes acquired tyrosinosis in alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1014, doi. 10.1002/jimd.12229
    By:
    • Khedr, Milad;
    • Cooper, Maggie S.;
    • Hughes, Andrew T.;
    • Milan, Anna M.;
    • Davison, Andrew S.;
    • Norman, Brendan P.;
    • Sutherland, Hazel;
    • Jarvis, Jonathan C.;
    • Fitzgerald, Richard;
    • Markinson, Louise;
    • Psarelli, Eftychia‐Eirini;
    • Ghane, Parisa;
    • Deutz, Nicolaas E. P.;
    • Gallagher, James A.;
    • Ranganath, Lakshminarayan R.
    Publication type:
    Article
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    Developments in the treatment of Fabry disease.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 908, doi. 10.1002/jimd.12228
    By:
    • Veen, Sanne J.;
    • Hollak, Carla E. M.;
    • Kuilenburg, André B. P.;
    • Langeveld, Mirjam
    Publication type:
    Article
    26

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1, doi. 10.1002/jimd.12120
    Publication type:
    Article