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  1. Welling, Lindsey; Bernstein, Laurie E.; Berry, Gerard T.; Burlina, Alberto B.; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S.; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H.; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A.; Õunap, Katrin; Potter, Nancy L.; Rubio‐Gozalbo, M. Estela; Spencer, Jessica B.; Timmers, Inge; Treacy, Eileen P.; Van Calcar, Sandra C.; Waisbren, Susan E.; Bosch, Annet M.

    International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up

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    Wiley, 2017

    Published in: Journal of Inherited Metabolic Disease

  2. Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A; Farris, Joseph; Østergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas V; Magistrati, Martina; Spector, Elaine B; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G; Feichtinger, René G; Achleitner, Melanie T; Lawrence Merritt II, J; Pérez, Belén; Ugarte, Magdalena; Grünewald, Stephanie; Riela, Anthony R; Julve, Natalia; Arnoux, Jean-Baptiste; [...]

    Pathogenic variants inGCSHencoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

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    Oxford University Press (OUP), 2023

    Published in: Human Molecular Genetics

  3. Panis, Bianca; Vos, E. Naomi; Barić, Ivo; Bosch, Annet M.; Brouwers, Martijn C. G. J.; Burlina, Alberto; Cassiman, David; Coman, David J.; Couce, María L.; Das, Anibh M.; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D. K.; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; [...]

    Brain function in classic galactosemia, a galactosemia network (GalNet) members review

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    Frontiers Media SA, 2024

    Published in: Frontiers in Genetics

  4. Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K.; Baldwin, Tom; Alrashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M.; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; [...]

    The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

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    Wiley, 2023

    Published in: Journal of Inherited Metabolic Disease

  5. Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco‐Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; Cerone, Roberto; Chabrol, Brigitte; Chapman, Kimberly A.; Couce, Maria Luz; [...]

    Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

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    Wiley, 2019

    Published in: Journal of Inherited Metabolic Disease

  6. Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès i Saladelafont, Elisenda; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; [...]

    Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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    Wiley, 2015

    Published in: Journal of Inherited Metabolic Disease

  7. Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès i Saladelafont, Elisenda; Couce, Maria L.; de Meirleir, Linda; Dobbelaere, Dries; [...]

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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    Wiley, 2015

    Published in: Journal of Inherited Metabolic Disease