Search Results - Martinelli, Diego
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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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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
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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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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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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Related Subjects
MetabERN
ERDRI
European infrastructure for rare diseases
European reference network for rare hereditary metabolic disorders
Inherited metabolic diseases
U-IMD
Unified european registry for inherited metabolic diseases
amino acid and organic acid diseases
autophagy
cellular trafficking
congenital disorders
development
inborn errors of metabolism
morbidity
mortality
neurodegeneration
neurodevelopment
quality of life
solid organ transplantation