Search Results - Martinelli, Diego

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  1. 1
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    An update on autophagy disorders by Dafsari, Hormos Salimi (Author) , Martinelli, Diego (Author) , Saffari, Afshin (Author) , Ebrahimi-Fakhari, Darius (Author) , Fanto, Manolis (Author) , Dionisi-Vici, Carlo (Author) , Jungbluth, Heinz (Author) ,


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  2. 2
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    U-IMD: the first Unified European registry for inherited metabolic diseases by Opladen, Thomas (Author) , Gleich, Florian (Author) , Kozich, Viktor (Author) , Scarpa, Maurizio (Author) , Martinelli, Diego (Author) , Schaefer, Franz (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , García-Cazorla, Ángels (Author) , Dionisi-Vici, Carlo (Author) , Kölker, Stefan (Author) ,


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  3. 3
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    Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: an overview on European data by Molema, Femke (Author) , Martinelli, Diego (Author) , Hörster, Friederike (Author) , Kölker, Stefan (Author) , Tangeraas, Trine (Author) , Koning, Barbara de (Author) , Dionisi-Vici, Carlo (Author) , Williams, Monique (Author) ,


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  4. 4
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    Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: analysis of an international data set by Bösch, Florin (Author) , Landolt, Markus A. (Author) , Baumgartner, Matthias R. (Author) , Zeltner, Nina (Author) , Kölker, Stefan (Author) , Gleich, Florian (Author) , Burlina, Alberto (Author) , Cazzorla, Chiara (Author) , Packman, Wendy (Author) , Schwartz, Ida V. D. (Author) , Vieira Neto, Eduardo (Author) , Ribeiro, Márcia G. (Author) , Martinelli, Diego (Author) , Olivieri, Giorgia (Author) , Huemer, Martina (Author) ,


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


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  6. 6
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    Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine by Martinelli, Diego (Author) , Haußer-Siller, Ingrid (Author) ,


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