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Author/Creator Couce, Maria Luz

1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation. Issue 4 (21st April 2020)

Authors:
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, Esme...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
671
Record Type:
Journal Article
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3. Newborn screening for homocystinurias: Recent recommendations versus current practice. Issue 1 (11th February 2019)

Authors:
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, Javi...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
128
Record Type:
Journal Article
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4. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Issue 2 (17th February 2019)

Authors:
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;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
333
Record Type:
Journal Article
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5. Postauthorization safety study of betaine anhydrous. Issue 4 (6th April 2022)

Authors:
Mütze, Ulrike; Gleich, Florian; Garbade, Sven F.; Plisson, Céline; Aldámiz‐Echevarría, Luis; Arrieta, Francisco; Ballhausen, Diana; Zielonka, Matthias; Petković Ramadža, Danijela; Baumgartner, Matthias R.; Cano, Aline; García Jiménez, María Concepción; Dionisi‐Vici, Carlo; Ješina, Pavel; Blom, He...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
719
Record Type:
Journal Article
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