Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 1

Results: 20
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    Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 147, doi. 10.1002/jimd.12036
    By:
    • Williams, Monique;
    • Valayannopoulos, Vassili;
    • Altassan, Ruqaiah;
    • Chung, Wendy K.;
    • Heijboer, Annemieke C.;
    • Keng, Wei Teik;
    • Lapatto, Risto;
    • McClean, Patricia;
    • Mulder, Margot F.;
    • Tylki‐Szymańska, Anna;
    • Walenkamp, Marie‐Jose E.;
    • Alfadhel, Majid;
    • Alakeel, Hajar;
    • Salomons, Gajja S.;
    • Eyaid, Wafaa;
    • Wamelink, Mirjam M. C.
    Publication type:
    Article
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    Newborn screening for homocystinurias: Recent recommendations versus current practice.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 128, doi. 10.1002/jimd.12034
    By:
    • Keller, Rebecca;
    • Chrastina, Petr;
    • Pavlíková, Markéta;
    • Gouveia, Sofía;
    • Ribes, Antonia;
    • Kölker, Stefan;
    • Blom, Henk J.;
    • Baumgartner, Matthias R.;
    • Bártl, Josef;
    • Dionisi‐Vici, Carlo;
    • Gleich, Florian;
    • Morris, Andrew A.;
    • Kožich, Viktor;
    • Huemer, Martina;
    • Barić, Ivo;
    • Ben‐Omran, Tawfeq;
    • Blasco‐Alonso, Javier;
    • Bueno Delgado, Maria A.;
    • Carducci, Claudia;
    • Cassanello, Michela
    Publication type:
    Article
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    Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD).

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 169, doi. 10.1002/jimd.12038
    By:
    • Vockley, Jerry;
    • Burton, Barbara;
    • Berry, Gerard T.;
    • Longo, Nicola;
    • Phillips, John;
    • Sanchez‐Valle, Amarilis;
    • Tanpaiboon, Pranoot;
    • Grunewald, Stephanie;
    • Murphy, Elaine;
    • Bowden, Alexandra;
    • Chen, Wencong;
    • Chen, Chao‐Yin;
    • Cataldo, Jason;
    • Marsden, Deborah;
    • Kakkis, Emil
    Publication type:
    Article
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    Proposal for an individualized dietary strategy in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 159, doi. 10.1002/jimd.12037
    By:
    • Bleeker, Jeannette C.;
    • Kok, Irene L.;
    • Ferdinandusse, Sacha;
    • de Vries, Maaike;
    • Derks, Terry G.J.;
    • Mulder, Margot F.;
    • Williams, Monique;
    • Gozalbo, Estela Rubio;
    • Bosch, Annet M.;
    • van den Hurk, Dorine T.;
    • de Sain‐van der Velden, Monique G.M.;
    • Waterham, Hans R.;
    • Wijburg, Frits A.;
    • Visser, Gepke
    Publication type:
    Article
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    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 93, doi. 10.1002/jimd.12031
    By:
    • Posset, Roland;
    • Garbade, Sven F.;
    • Boy, Nikolas;
    • Burlina, Alberto B.;
    • Dionisi‐Vici, Carlo;
    • Dobbelaere, Dries;
    • Garcia‐Cazorla, Angeles;
    • de Lonlay, Pascale;
    • Teles, Elisa Leão;
    • Vara, Roshni;
    • Mew, Nicholas Ah.;
    • Batshaw, Mark L.;
    • Baumgartner, Matthias R.;
    • McCandless, Shawn;
    • Seminara, Jennifer;
    • Summar, Marshall;
    • Hoffmann, Georg F.;
    • Kölker, Stefan;
    • Burgard, Peter;
    • Bloxam, Sondra
    Publication type:
    Article
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    International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 5, doi. 10.1002/jimd.12024
    By:
    • Altassan, Ruqaiah;
    • Péanne, Romain;
    • Jaeken, Jaak;
    • Barone, Rita;
    • Bidet, Muad;
    • Borgel, Delphine;
    • Brasil, Sandra;
    • Cassiman, David;
    • Cechova, Anna;
    • Coman, David;
    • Corral, Javier;
    • Correia, Joana;
    • de la Morena‐Barrio, María Eugenia;
    • de Lonlay, Pascale;
    • Dos Reis, Vanessa;
    • Ferreira, Carlos R;
    • Fiumara, Agata;
    • Francisco, Rita;
    • Freeze, Hudson;
    • Funke, Simone
    Publication type:
    Article
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    Issue Information.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. N.PAG, doi. 10.1002/jimd.12000
    Publication type:
    Article
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