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1. Full Text Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
by Huemer, Martina and Huemer, Martina and Diodato, Daria and Diodato, Daria and Schwahn, Bernd and Schwahn, Bernd and Schiff, Manuel and Schiff, Manuel and Bandeira, Anabela and Bandeira, Anabela and Benoist, Jean-Francois and Benoist, Jean-Francois and Burlina, Alberto and Burlina, Alberto and Cerone, Roberto and Cerone, Roberto and Couce, Maria L and Couce, Maria L and Garcia-Cazorla, Angeles and Garcia-Cazorla, Angeles and la Marca, Giancarlo and la Marca, Giancarlo and Pasquini, Elisabetta and Pasquini, Elisabetta and Vilarinho, Laura and Vilarinho, Laura and Weisfeld-Adams, James D and Weisfeld-Adams, James D and Kožich, Viktor and Kožich, Viktor and Blom, Henk and Blom, Henk and Baumgartner, Matthias R and Baumgartner, Matthias R and Dionisi-Vici, Carlo and Dionisi-Vici, Carlo
Journal of inherited metabolic disease, ISSN 0141-8955, 1/2017, Volume 40, Issue 1, pp. 21 - 48
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Animals | Methylation - drug effects | Humans | Vitamin B 12 - pharmacology | Proto-Oncogene Proteins c-cbl - deficiency | Methylenetetrahydrofolate Reductase (NADPH2) - deficiency | Vitamin B 12 - therapeutic use | Homocysteine - genetics | Methionine - genetics | Practice guidelines (Medicine) | Care and treatment | Genetic disorders | Diagnosis | Methylation | Analysis | Index Medicus | Guidelines
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2. Full Text Mathematical modeling of drug resistance due to KRAS mutation in colorectal cancer
by Sameen, Sheema and Barbuti, Roberto and Milazzo, Paolo and Cerone, Antonio and Del Re, Marzia and Danesi, Romano
Journal of theoretical biology, ISSN 0022-5193, 01/2016, Volume 389, pp. 263 - 273
KRAS mutation | Monoclonal antibody resistance | Mathematical model | Colorectal cancer | Biology | Life Sciences & Biomedicine - Other Topics | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Models, Theoretical | ras Proteins - genetics | Drug Screening Assays, Antitumor - methods | Camptothecin - therapeutic use | Colorectal Neoplasms - genetics | Humans | Drug Resistance, Neoplasm | Antineoplastic Agents - therapeutic use | Lymphocytes - cytology | Antineoplastic Agents - chemistry | Cetuximab - therapeutic use | Immune System | Stochastic Processes | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | ras Proteins - chemistry | Colorectal Neoplasms - drug therapy | Computer Simulation | Mutation | Antibodies, Monoclonal - chemistry | Camptothecin - analogs & derivatives | Genes, ras - genetics | Chemotherapy | Analysis | Monoclonal antibodies | Models | Drug resistance | Cancer | Index Medicus
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3. Full Text Erratum to: The Italian Registry of Endovascular Treatment in Acute Stroke: rationale, design and baseline features of patients (Neurol Sci (2015), 36, (985-993), 10.1007/s10072-014-2053-5)
by Mangiafico, Salvatore and Pracucci, Giovanni and Saia, Valentina and Nencini, Patrizia and Inzitari, Domenico and Nappini, Sergio and Vallone, Stefano and Zini, Andrea and Fuschi, Maurizio and Cerone, Davide and Bergui, Mauro and Cerrato, Paolo and Gandini, Roberto and Sallustio, Fabrizio and Saletti, Andrea and De Vito, Alessandro and Romano, Daniele G and Tassi, Rossana and Causin, Francesco and Baracchini, Claudio and Piano, Mariangela and Motto, Cristina and Ciccone, Alfonso and Gasparotti, Roberto and Magoni, Mauro and Giorgianni, Andrea and DeLodovici, Marialuisa and Cavasin, Nicola and Critelli, Adriana and Gallucci, Massimo and Carolei, Antonio and Meloni, Teodoro and Corso, Giovanni and Vaudano, Giacomo and Duc, Enrica and Zappoli, Federico and Cavallini, Anna and Padolecchia, Riccardo and Tassinari, Tiziana and Longoni, Marco and Salmaggi, Andrea and Zampieri, PierGiuseppe and Bovi, Paolo and Puglioli, Michele and Chiti, Alberto and Guidetti, Giulio and Simonetti, Luigi and Procaccianti, Gaetano and Menozzi, Roberto and Scoditti, Umberto and Ricciardi, Fabrizio and Pezzella, Francesca R and Guarnieri, Gianluigi and Andreone, Vincenzo and Toni, Danilo
Neurological sciences, ISSN 1590-1874, 10/2015, Volume 36, Issue 10, pp. 1975 - 1978
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4. Full Text Why do premature newborn infants display elevated blood adenosine levels?
by Panfoli, Isabella and Cassanello, Michela and Bruschettini, Matteo and Colella, Marina and Cerone, Roberto and Ravera, Silvia and Calzia, Daniela and Candiano, Giovanni and Ramenghi, Luca
Medical hypotheses, ISSN 0306-9877, 2016, Volume 90, pp. 53 - 56
Internal Medicine | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Myelin Sheath - physiology | Oxidative Stress | Endothelial Cells - metabolism | Humans | Oxidative Phosphorylation | Axons - metabolism | Oxygen - adverse effects | Adenosine Triphosphate - biosynthesis | Neurogenesis | Infant, Very Low Birth Weight - blood | Oxygen - blood | Action Potentials | Dose-Response Relationship, Drug | Oxygen - administration & dosage | Adenosine - blood | Infant, Premature - blood | Oxygen Inhalation Therapy - adverse effects | Models, Biological | Cell Membrane - metabolism | Oligodendroglia - cytology | Infant, Newborn | Blood-Brain Barrier | Infants (Premature) | Adenosine | Index Medicus | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
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5. Full Text International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
by Muntau, Ania C and Adams, Darius J and Bélanger-Quintana, Amaya and Bushueva, Tatiana V and Cerone, Roberto and Chien, Yin-Hsiu and Chiesa, Ana and Coşkun, Turgay and de las Heras, Javier and Feillet, François and Katz, Rachel and Lagler, Florian and Piazzon, Flavia and Rohr, Fran and van Spronsen, Francjan J and Vargas, Paula and Wilcox, Gisela and Bhattacharya, Kaustuv
Molecular genetics and metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 1 - 11
Response | Pregnancy | Phenylketonuria | Phenylalanine | Tetrahydrobiopterin | Sapropterin dihydrochloride | ADULT PATIENTS | DIAGNOSIS | BASE-LINE | BH4 | HYPERPHENYLALANINEMIA | TETRAHYDROBIOPTERIN LOADING TEST | MATERNAL PHENYLKETONURIA | PKU | LONG-TERM TREATMENT | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Index Medicus
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6. Full Text Clinical presentation and outcome in a series of 88 patients with the cblC defect
by Fischer, Sabine and Huemer, Martina and Baumgartner, Matthias and Deodato, Federica and Ballhausen, Diana and Boneh, Avihu and Burlina, Alberto B and Cerone, Roberto and Garcia, Paula and Gökçay, Gülden and Grünewald, Stephanie and Häberle, Johannes and Jaeken, Jaak and Ketteridge, David and Lindner, Martin and Mandel, Hanna and Martinelli, Diego and Martins, Esmeralda G and Schwab, Karl O and Gruenert, Sarah C and Schwahn, Bernd C and Sztriha, László and Tomaske, Maren and Trefz, Friedrich and Vilarinho, Laura and Rosenblatt, David S and Fowler, Brian and Dionisi-Vici, Carlo
Journal of inherited metabolic disease, ISSN 0141-8955, 9/2014, Volume 37, Issue 5, pp. 831 - 840
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Proto-Oncogene Proteins c-cbl - genetics | Prognosis | Humans | Metabolism, Inborn Errors - metabolism | Child, Preschool | Infant | Male | Metabolism, Inborn Errors - therapy | Metabolism, Inborn Errors - genetics | Disease Progression | Carrier Proteins - genetics | Ethnic Groups | Age of Onset | Brain - pathology | Female | Surveys and Questionnaires | Child | Vitamin B 12 - metabolism | Infant, Newborn | Folic acid | Index Medicus
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