Works matching IS 01418955 AND DT 2017 AND VI 40 AND IP 1

Results: 16
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    Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 121, doi. 10.1007/s10545-016-9977-2
    By:
    • Oláhová, Monika;
    • Thompson, Kyle;
    • Hardy, Steven;
    • Barbosa, Inês;
    • Besse, Arnaud;
    • Anagnostou, Maria-Eleni;
    • White, Kathryn;
    • Davey, Tracey;
    • Simpson, Michael;
    • Champion, Michael;
    • Enns, Greg;
    • Schelley, Susan;
    • Lightowlers, Robert;
    • Chrzanowska-Lightowlers, Zofia;
    • McFarland, Robert;
    • Deshpande, Charu;
    • Bonnen, Penelope;
    • Taylor, Robert
    Publication type:
    Article
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    Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 49, doi. 10.1007/s10545-016-9979-0
    By:
    • Morris, Andrew;
    • Kožich, Viktor;
    • Santra, Saikat;
    • Andria, Generoso;
    • Ben-Omran, Tawfeg;
    • Chakrapani, Anupam;
    • Crushell, Ellen;
    • Henderson, Mick;
    • Hochuli, Michel;
    • Huemer, Martina;
    • Janssen, Miriam;
    • Maillot, Francois;
    • Mayne, Philip;
    • McNulty, Jenny;
    • Morrison, Tara;
    • Ogier, Helene;
    • O'Sullivan, Siobhan;
    • Pavlíková, Markéta;
    • Almeida, Isabel;
    • Terry, Allyson
    Publication type:
    Article
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    Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
    By:
    • Huemer, Martina;
    • Diodato, Daria;
    • Schwahn, Bernd;
    • Schiff, Manuel;
    • Bandeira, Anabela;
    • Benoist, Jean-Francois;
    • Burlina, Alberto;
    • Cerone, Roberto;
    • Couce, Maria;
    • Garcia-Cazorla, Angeles;
    • Marca, Giancarlo;
    • Pasquini, Elisabetta;
    • Vilarinho, Laura;
    • Weisfeld-Adams, James;
    • Kožich, Viktor;
    • Blom, Henk;
    • Baumgartner, Matthias;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
    By:
    • Boy, Nikolas;
    • Mühlhausen, Chris;
    • Maier, Esther;
    • Heringer, Jana;
    • Assmann, Birgit;
    • Burgard, Peter;
    • Dixon, Marjorie;
    • Fleissner, Sandra;
    • Greenberg, Cheryl;
    • Harting, Inga;
    • Hoffmann, Georg;
    • Karall, Daniela;
    • Koeller, David;
    • Krawinkel, Michael;
    • Okun, Jürgen;
    • Opladen, Thomas;
    • Posset, Roland;
    • Sahm, Katja;
    • Zschocke, Johannes;
    • Kölker, Stefan
    Publication type:
    Article
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