Works matching IS 01418955 AND DT 2020 AND VI 43 AND IP 4


Results: 25
    1

    News and views.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 647, doi. 10.1002/jimd.12263
    By:
    • Wanders, Ronald J. A.;
    • Karnebeek, Clara D. M.;
    • Jans, Judith J. M.;
    • Verhoeven, Nanda M.;
    • Houten, Sander M.
    Publication type:
    Article
    2

    News and views.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 651, doi. 10.1002/jimd.12252
    By:
    • Houten, Sander M.;
    • Argmann, Carmen
    Publication type:
    Article
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    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 671, doi. 10.1002/jimd.12241
    By:
    • Čechová, Anna;
    • Altassan, Ruqaiah;
    • Borgel, Delphine;
    • Bruneel, Arnaud;
    • Correia, Joana;
    • Girard, Muriel;
    • Harroche, Annie;
    • Kiec‐Wilk, Beata;
    • Mohnike, Klaus;
    • Pascreau, Tiffany;
    • Pawliński, Łukasz;
    • Radenkovic, Silvia;
    • Vuillaumier‐Barrot, Sandrine;
    • Aldamiz‐Echevarria, Luis;
    • Couce, Maria Luz;
    • Martins, Esmeralda G.;
    • Quelhas, Dulce;
    • Morava, Eva;
    • Lonlay, Pascale;
    • Witters, Peter
    Publication type:
    Article
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    Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224
    By:
    • Rossi, Alessandro;
    • Hoogeveen, Irene J.;
    • Bastek, Vanessa B.;
    • Boer, Foekje;
    • Montanari, Chiara;
    • Meyer, Uta;
    • Maiorana, Arianna;
    • Bordugo, Andrea;
    • Dianin, Alice;
    • Campana, Carmen;
    • Rigoldi, Miriam;
    • Kishnani, Priya S.;
    • Pendyal, Surekha;
    • Strisciuglio, Pietro;
    • Gasperini, Serena;
    • Parenti, Giancarlo;
    • Parini, Rossella;
    • Paci, Sabrina;
    • Melis, Daniela;
    • Derks, Terry G. J.
    Publication type:
    Article
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    Expanding the molecular and clinical phenotypes of FUT8‐CDG.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 871, doi. 10.1002/jimd.12221
    By:
    • Ng, Bobby G.;
    • Dastsooz, Hassan;
    • Silawi, Mohammad;
    • Habibzadeh, Parham;
    • Jahan, Shima B.;
    • Fard, Mohammad A. F.;
    • Halliday, Benjamin J.;
    • Raymond, Kimiyo;
    • Ruzhnikov, Maura R. Z.;
    • Tabatabaei, Zahra;
    • Taghipour‐Sheshdeh, Afsaneh;
    • Brimble, Elise;
    • Robertson, Stephen P.;
    • Faghihi, Mohammad A.;
    • Freeze, Hudson H.
    Publication type:
    Article
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    Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 819, doi. 10.1002/jimd.12218
    By:
    • Ogawa, Erika;
    • Fushimi, Takuya;
    • Ogawa‐Tominaga, Minako;
    • Shimura, Masaru;
    • Tajika, Makiko;
    • Ichimoto, Keiko;
    • Matsunaga, Ayako;
    • Tsuruoka, Tomoko;
    • Ishige, Mika;
    • Fuchigami, Tatsuo;
    • Yamazaki, Taro;
    • Kishita, Yoshihito;
    • Kohda, Masakazu;
    • Imai‐Okazaki, Atsuko;
    • Okazaki, Yasushi;
    • Morioka, Ichiro;
    • Ohtake, Akira;
    • Murayama, Kei
    Publication type:
    Article
    16

    Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217
    By:
    • Bleeker, Jeannette C.;
    • Visser, Gepke;
    • Clarke, Kieran;
    • Ferdinandusse, Sacha;
    • Haan, Ferdinand H.;
    • Houtkooper, Riekelt H.;
    • IJlst, Lodewijk;
    • Kok, Irene L.;
    • Langeveld, Mirjam;
    • Pol, W. Ludo;
    • Sain‐van der Velden, Monique G. M.;
    • Sibeijn‐Kuiper, Anita;
    • Takken, Tim;
    • Wanders, Ronald J. A.;
    • Weeghel, Michel;
    • Wijburg, Frits A.;
    • Woude, Luc H.;
    • Wüst, Rob C. I.;
    • Cox, Pete J.;
    • Jeneson, Jeroen A. L.
    Publication type:
    Article
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    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211
    By:
    • Hikmat, Omar;
    • Naess, Karin;
    • Engvall, Martin;
    • Klingenberg, Claus;
    • Rasmussen, Magnhild;
    • Tallaksen, Chantal ME;
    • Brodtkorb, Eylert;
    • Ostergaard, Elsebet;
    • Coo, I. F. M;
    • Pias‐Peleteiro, Leticia;
    • Isohanni, Pirjo;
    • Uusimaa, Johanna;
    • Darin, Niklas;
    • Rahman, Shamima;
    • Bindoff, Laurence A.
    Publication type:
    Article
    22
    23

    Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
    By:
    • De Vries, Maaike C.;
    • Brown, David A.;
    • Allen, Mitchell E.;
    • Bindoff, Laurence;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Costanza;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Varhaug, Kristin N.;
    • Schirris, Tom J. J.;
    • Mancuso, Michelangelo
    Publication type:
    Article
    24

    Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 737, doi. 10.1002/jimd.12181
    By:
    • Ranganath, Lakshminarayan R.;
    • Milan, Anna M.;
    • Hughes, Andrew T.;
    • Khedr, Milad;
    • Davison, Andrew S.;
    • Shweihdi, Ella;
    • Norman, Brendan P.;
    • Hughes, Juliette H.;
    • Bygott, Helen;
    • Luangrath, Emily;
    • Fitzgerald, Richard;
    • Psarelli, Eftychia E.;
    • Kan, Christa;
    • Laan, Dinny;
    • Olsson, Birgitta;
    • Rudebeck, Mattias;
    • Mankowitz, Louise;
    • Sireau, Nicolas;
    • Arnoux, Jean‐Baptiste;
    • Le Quan Sang, Kim‐Hanh
    Publication type:
    Article
    25

    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 1, doi. 10.1002/jimd.12118
    Publication type:
    Article