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Number of items: 12.

Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 39(5):661-672.

Baumgartner, Matthias; Valle, David; Dionisi-Vici, Carlo (2016). Disorders of ornithine and proline metabolism. In: Saudubray, Jean-Marie; Baumgartner, Matthias; Walter, John. Inborn metabolic diseases : diagnosis and treatment. Berlin Heidelberg: Springer Berlin Heidelberg, 321-331.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Baumgartner, Matthias R; Hörster, Friederike; Dionisi-Vici, Carlo; et al; Huemer, Martina; Hochuli, Michel; Fowler, Brian; Sass, Jörn (2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet Journal of Rare Diseases, 9(130):online.

Mayorandan, Sebene; Meyer, Uta; et al; Dionisi-Vici, Carlo (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet Journal of Rare Diseases, 9(1):107.

Blau, Nenad; Dionisi-Vici, Carlo (2014). Disorders of Glutathione and y-Glutamyl Cycle. In: Blau, Nenad; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 661-669.

Sass, Jörn Oliver; Grünert, Sarah C (2014). Disorders of Ketone Body Metabolism. In: Blau, N; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer-Verlag Berlin, 361-371.

Haeberle, Johannes; Rubio, Vicente (2014). Hyperammonemias and related disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer Verlag, 47-62.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

Zampatti, Stefania; Castori, Marco; Fischer, Bjoern; Ferrari, Paola; Garavelli, Livia; Dionisi-Vici, Carlo; Agolini, Emanuele; Wischmeijer, Anita; Morava, Eva; Novelli, Giuseppe; Häberle, Johannes; Kornak, Uwe; Brancati, Francesco (2012). De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of Medical Genetics. Part A, 158A(4):927-931.

Tessa, Alessandra; Fiermonte, Giuseppe; Dionisi-Vici, Carlo; Paradies, Eleonora; Baumgartner, Matthias R; Chien, Yin-Hsiu; Loguercio, Carmela; de Baulny, Helene Ogier; Nassogne, Marie-Cecile; Schiff, Manuel; Deodato, Federica; Parenti, Giancarlo; Rutledge, S Lane; Vilaseca, M Antonia; Melone, Mariarosa A B; Scarano, Giocchino; Aldamiz-Echevarría, Luiz; Besley, Guy; Walter, John; Martinez-Hernandez, Eugenia; Hernandez, Jose M; Pierri, Ciro L; Palmieri, Ferdinando; Santorelli, Filippo M (2009). Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Human Mutation, 30(5):741-748.

This list was generated on Mon Jul 23 16:08:16 2018 CEST.