C. Dionisi-Vici
发表
V. Rubio,
H. Mandel,
J. Häberle,
2019,
Journal of inherited metabolic disease.
E. Bertini,
D. Diodato,
D. Martinelli,
2015,
Orphanet Journal of Rare Diseases.
E. Bertini,
M. Rocchi,
T. Meitinger,
1998,
American journal of human genetics.
C. Nichols,
J. Koster,
C. Dionisi-Vici,
2010,
Diabetes.
E. Bertini,
R. Carrozzo,
D. Martinelli,
2014,
Clinica chimica acta; international journal of clinical chemistry.
R. Carrozzo,
L. Kluijtmans,
R. Wevers,
2009,
Mitochondrion.
R. Carrozzo,
F. Tort,
A. Ribes,
2020,
Journal of inherited metabolic disease.
C. Bosman,
E. Bertini,
C. Piantadosi,
1997,
Annals of neurology.
M. Digilio,
A. Novelli,
M. Raponi,
2022,
Journal of cardiovascular development and disease.
D. Martinelli,
C. Dionisi-Vici,
S. Boenzi,
2020,
Journal of inherited metabolic disease.
John E. Walker,
F. Santorelli,
C. Dionisi-Vici,
2003,
Journal of Biological Chemistry.
E. Bertini,
A. Montpetit,
R. Carrozzo,
2013,
Brain : a journal of neurology.
I. Lay,
T. Coşkun,
C. Dionisi-Vici,
2021,
Orphanet Journal of Rare Diseases.
C. Bosman,
R. Boldrini,
E. Bertini,
2001,
Neurology.
A. Palmigiano,
D. Garozzo,
C. Dionisi-Vici,
2017,
Journal of mass spectrometry : JMS.
M. Baumgartner,
H. Blom,
A. Ribes,
2018,
Journal of inherited metabolic disease.
C. Dionisi-Vici,
S. Boenzi,
F. Deodato,
2021,
Molecular genetics and metabolism.
C. Dionisi-Vici,
A. Maiorana,
P. Alfieri,
2021,
Orphanet Journal of Rare Diseases.
C. Dionisi-Vici,
F. Barbetti,
A. Maiorana,
2015,
Orphanet Journal of Rare Diseases.
J. C. Aledo,
C. Dionisi-Vici,
L. Lenzi,
2009
.
J. C. Aledo,
F. Bermúdez-Silva,
F. Rodríguez de Fonseca,
2009,
Molecular endocrinology.
Simona Lucioli,
Ron A Wevers,
Eva Morava,
2007,
Brain : a journal of neurology.
Robert W. Taylor,
E. Bertini,
R. Carrozzo,
2016,
Journal of Inherited Metabolic Disease.
D. Martinelli,
C. Dionisi-Vici,
S. Boenzi,
2015,
Journal of Inherited Metabolic Disease.
C. Dionisi-Vici,
S. Boenzi,
G. la Marca,
2014,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2009
.
R. Wanders,
M. Durán,
C. Dionisi-Vici,
2003,
Pediatric Research.
C. Dionisi-Vici,
S. Boenzi,
F. Deodato,
2005,
Neuropediatrics.
F. Santorelli,
C. Dionisi-Vici,
S. Boenzi,
2006,
American journal of medical genetics. Part C, Seminars in medical genetics.
E. Bertini,
E. Schaftingen,
G. Matthijs,
1998,
American journal of human genetics.
S. Kölker,
D. Martinelli,
C. Dionisi-Vici,
2020,
Journal of inherited metabolic disease.
S. Lorenzl,
P. Bauer,
M. Topcu,
2017,
Current medical research and opinion.
Enrico Bertini,
Filippo Maria Santorelli,
R. Boldrini,
2011,
Biochemical and biophysical research communications.
C. Dionisi-Vici,
M. Donati,
F. Deodato,
2017,
Metabolic Brain Disease.
E. Agolini,
A. Novelli,
D. Cocciadiferro,
2021
.
M. L. Ciofi Degli Atti,
M. Villa,
U. Raucci,
2020,
Pediatric emergency care.
R. Boldrini,
G. Dini,
E. Lanino,
2003,
The American journal of pathology.
A. Masotti,
F. Emma,
C. Dionisi-Vici,
2014,
Amino Acids.
E. Bertini,
B. Nilius,
G. Gillessen‐kaesbach,
2011,
American journal of medical genetics. Part A.
M. Baumgartner,
C. Marco-Marín,
V. Rubio,
2012,
Journal of Inherited Metabolic Disease.
Ich,
M. Baumgartner,
H. Blom,
2019
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M. Baumgartner,
H. Blom,
L. Vilarinho,
2016,
Journal of Inherited Metabolic Disease.
L. D’Antiga,
P. Vajro,
C. Dionisi-Vici,
2021,
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.
F. Santorelli,
C. Dionisi-Vici,
G. Fiermonte,
2003
.
D. Martinelli,
C. Dionisi-Vici,
S. Boenzi,
2012,
Journal of Inherited Metabolic Disease.
D. Martinelli,
C. Dionisi-Vici,
S. Boenzi,
2011,
Journal of pharmaceutical and biomedical analysis.
N. Brown,
A. Hamosh,
K. Flanigan,
2016,
Brain : a journal of neurology.
T. Hennet,
G. Matthijs,
N. Goemans,
2009,
Journal of Inherited Metabolic Disease.
E. Mercuri,
R. Battini,
D. Diodato,
2020,
Journal of inherited metabolic disease.
D. Lavanchy,
F. Froehlich,
J. Gonvers,
1999,
Clinical chemistry.
E. Bertini,
R. Carrozzo,
G. Enns,
2013,
Molecular genetics and metabolism.
E. Bertini,
F. Santorelli,
J. Chelly,
2000,
American journal of medical genetics.
M. Gautel,
C. Dionisi-Vici,
H. Jungbluth,
2016,
Orphanet Journal of Rare Diseases.
C. Dionisi-Vici,
F. Deodato,
A. Galeotti,
2020,
Orphanet Journal of Rare Diseases.
C. Dionisi-Vici,
D. Longo,
A. Napolitano,
2020,
Metabolites.
C. Dionisi-Vici,
F. Deodato,
B. Wilcken,
2006,
Journal of Inherited Metabolic Disease.
V. Petruzzella,
R. Carrozzo,
A. Tessa,
2003,
Neurology.
C. Dionisi-Vici,
J. de Ville de Goyet,
A. Bartuli,
2012,
Pediatric transplantation.
A. Alisi,
S. Ceccarelli,
C. Dionisi-Vici,
2014,
International journal of molecular sciences.
M. Baumgartner,
D. Rizopoulos,
Y. Chien,
2019,
Molecular genetics and metabolism.
D. Martinelli,
C. Dionisi-Vici,
2014,
Annals of the New York Academy of Sciences.
J. Saudubray,
D. Martinelli,
C. Dionisi-Vici,
2022,
Trends in genetics : TIG.
S. Dimauro,
E. Bertini,
R. Pagon,
1990,
Pediatric Research.
G. Andria,
D. Melis,
A. Burlina,
2015,
The Journal of pediatrics.
E. Bertini,
C. Dionisi-Vici,
S. Cascioli,
2012,
American journal of medical genetics. Part A.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2015,
European Journal of Human Genetics.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2011,
neurogenetics.
R. Wevers,
J. Smeitink,
G. Hoffmann,
2000,
The Journal of pediatrics.
E. Bertini,
F. Drago,
D. Martinelli,
2021,
Biomolecules.
M. Tuchman,
M. Baumgartner,
S. Waisbren,
2020,
Scientific Reports.
D. Timson,
M. Gautschi,
M. Couce,
2022,
Orphanet Journal of Rare Diseases.
C. Dionisi-Vici,
L. Russo,
A. Maiorana,
2022,
Orphanet Journal of Rare Diseases.
C. Stanley,
P. Gasparini,
S. Shyng,
2013,
Gene.
A. Hamosh,
W. O'Brien,
D. Dimmock,
2009,
Molecular genetics and metabolism.
G. Andria,
D. Melis,
C. Dionisi-Vici,
2013,
Hormone Research in Paediatrics.
E. Bertini,
R. Carrozzo,
H. Prokisch,
2022,
American journal of human genetics.
A. Novelli,
M. Mucciolo,
C. Dionisi-Vici,
2019,
Molecular genetics & genomic medicine.
R. Wanders,
J. Ibdah,
M. Bennett,
1998,
The Journal of clinical investigation.
E. Bertini,
F. Taroni,
B. Garavaglia,
1996,
The Journal of pediatrics.
D. Liccardo,
C. Dionisi-Vici,
S. Boenzi,
2020,
Clinica chimica acta; international journal of clinical chemistry.
M. Plebani,
A. Burlina,
C. Dionisi-Vici,
2017,
Clinical chemistry and laboratory medicine.
D. Martinelli,
C. Dionisi-Vici,
R. Parini,
2019,
Journal of inherited metabolic disease.
F. Brancati,
G. Novelli,
U. Kornak,
2012,
American journal of medical genetics. Part A.
F. Emma,
C. Dionisi-Vici,
M. Luciani,
2014,
Nutrition.
C. Dionisi-Vici,
A. Dotta,
C. Auriti,
2020,
International journal of molecular sciences.
E. Bertini,
S. Petrillo,
C. Dionisi-Vici,
2012,
Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals.
M. Baumgartner,
B. Seifert,
H. Blom,
2018,
Journal of Inherited Metabolic Disease.
C. Bosman,
R. Boldrini,
E. Bertini,
2001,
Neurology.
M. Manco,
C. Dionisi-Vici,
S. Boenzi,
2015,
Clinica chimica acta; international journal of clinical chemistry.
M. Baumgartner,
N. Ah Mew,
S. Kölker,
2018,
Journal of inherited metabolic disease.
E. Bertini,
R. Carrozzo,
F. Santorelli,
2012,
neurogenetics.
F. Santorelli,
G. Andria,
P. Vajro,
2006,
Journal of Inherited Metabolic Disease.
S. Salvi,
C. Dionisi-Vici,
E. Bertini,
2001,
Human mutation.
A. Fiocchi,
C. Dionisi-Vici,
A. Martelli,
2014,
Current opinion in allergy and clinical immunology.
C. Dionisi-Vici,
F. Deodato,
G. Grutter,
2014,
Journal of child neurology.
E. Bertini,
C. Dionisi-Vici,
V. Leuzzi,
2000,
Neurology.
R. Russell,
H. Prokisch,
C. Klein,
2019,
Genetics in Medicine.
R. Boldrini,
C. Dionisi-Vici,
F. Deodato,
2014,
European Journal of Pediatrics.
H. Waterham,
R. Wanders,
F. Eyskens,
2009,
Human mutation.
R. Carrozzo,
C. Dionisi-Vici,
S. Boenzi,
2018,
Clinica chimica acta; international journal of clinical chemistry.
C. Dionisi-Vici,
S. Boenzi,
F. Deodato,
2016,
Journal of Lipid Research.
E. Bertini,
R. Carrozzo,
E. Lamantea,
2016,
Journal of Neurology.
C. Marco-Marín,
V. Rubio,
F. Faravelli,
2019,
Annals of clinical and translational neurology.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
A. Angeloni,
I. Bucci,
C. Dionisi-Vici,
2022,
International journal of neonatal screening.
C. Stanley,
D. Rabier,
P. Kamoun,
2001,
Pediatric Research.
I. Gérin,
E. Schaftingen,
M. Veiga-da-Cunha,
1998,
American journal of human genetics.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology.
Rishi Sharma,
P. Gissen,
S. Santra,
2022,
medRxiv.
M. Baumgartner,
E. Rodrigues,
C. Ortez,
2015,
Journal of Inherited Metabolic Disease.
D. Martinelli,
C. Dionisi-Vici,
F. Deodato,
2011,
Journal of Inherited Metabolic Disease.
M. Digilio,
A. Giannotti,
F. Santorelli,
2002
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R. Carrozzo,
A. Giannotti,
A. Tessa,
2000,
American journal of medical genetics.
R. Carrozzo,
B. Dallapiccola,
F. Drago,
2019,
American journal of medical genetics. Part A.
G. Diamond,
E. Rappaport,
P. Fortina,
1994,
Journal of Inherited Metabolic Disease.
E. Bertini,
R. Carrozzo,
A. D’Amico,
2014,
Molecular genetics and metabolism.
A. Masotti,
F. Emma,
C. Dionisi-Vici,
2014,
Amino Acids.
F. Emma,
E. Verrina,
A. Burlina,
2015,
Pediatric Nephrology.
C. Dionisi-Vici,
R. Guéant-Rodriguez,
David Coelho,
2021,
Human Genetics.
E. Bertini,
V. Petruzzella,
R. Carrozzo,
2013,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
H. Blom,
S. Kölker,
2020,
Journal of inherited metabolic disease.
C. Dionisi-Vici,
L. Perioli,
B. Goffredo,
2020,
Biomedical chromatography : BMC.
E. Bertini,
P. Rinaldo,
F. Zacchello,
1991,
The Lancet.
R. Carrozzo,
D. Diodato,
D. Martinelli,
2018,
Clinica chimica acta; international journal of clinical chemistry.
E. Bertini,
R. Carrozzo,
Domenico de Rasmo,
2018,
Human molecular genetics.
E. Bertini,
R. Carrozzo,
Domenico de Rasmo,
2018,
Human molecular genetics.
M. Bianchi,
D. Martinelli,
C. Dionisi-Vici,
2019,
Orphanet Journal of Rare Diseases.
R. Gatti,
D. Martinelli,
C. Dionisi-Vici,
2012,
Molecular genetics and metabolism.
A. Erez,
P. Gissen,
J. Häberle,
2019,
Journal of inherited metabolic disease.
K. Gibson,
P. Malaspina,
C. Dionisi-Vici,
2009,
Journal of Inherited Metabolic Disease.
W. Chung,
A. Ribes,
V. Iacobazzi,
2004,
Human mutation.
J. Leonard,
G. Pintos-Morell,
C. Dionisi-Vici,
2013,
Orphanet Journal of Rare Diseases.
M. Baumgartner,
B. Seifert,
H. Blom,
2019,
Journal of inherited metabolic disease.
D. Martinelli,
C. Dionisi-Vici,
S. Boenzi,
2013,
Molecular genetics and metabolism.
G. Uziel,
F. Santorelli,
E. Leão,
2008,
Molecular genetics and metabolism.
G. Federici,
C. Dionisi-Vici,
F. Fina,
2000,
Clinica chimica acta; international journal of clinical chemistry.
A. Novelli,
G. Di Dalmazi,
I. Bucci,
2022,
International journal of environmental research and public health.
I. Bucci,
Sara Verrocchio,
C. Dionisi-Vici,
2021,
International journal of environmental research and public health.
E. Bertini,
M. Zeviani,
C. Dionisi-Vici,
2003
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C. Dionisi-Vici,
C. Bachmann,
G. Sabetta,
1988,
Journal of Inherited Metabolic Disease.
Robert W. Taylor,
A. Ballabio,
E. Bertini,
2020,
Journal of inherited metabolic disease.
E. Bertini,
C. Dionisi-Vici,
M. Hachem,
2010
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Anita MacDonald,
Flemming Skovby,
Brian Fowler,
2014,
Orphanet Journal of Rare Diseases.
P. Clayton,
G. Schwarz,
D. Martinelli,
2022,
Redox biology.
M. Baumgartner,
H. Mandel,
E. Martins,
2014,
Journal of Inherited Metabolic Disease.
R. Carrozzo,
S. Wortmann,
T. Haack,
2017,
Clinica chimica acta; international journal of clinical chemistry.
V. Rubio,
N. Boddaert,
J. Häberle,
2012,
Orphanet Journal of Rare Diseases.
D. Gazzolo,
C. Dionisi-Vici,
D. Pieragostino,
2020,
International journal of environmental research and public health.
I. Bucci,
C. Dionisi-Vici,
L. Stuppia,
2020,
Metabolites.
M. Baumgartner,
M. Hochuli,
S. Grünert,
2021,
Journal of inherited metabolic disease.
E. Bertini,
C. Dionisi-Vici,
M. Hachem,
2008
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E. Bertini,
G. Federici,
C. Dionisi-Vici,
2000,
Journal of Inherited Metabolic Disease.
C. Dionisi-Vici,
C. Brown,
M. Scarpa,
2020,
Orphanet Journal of Rare Diseases.
L. P. Van den Heuvel,
E. Levtchenko,
F. Emma,
2021,
Cells.
M. Gautel,
S. Mohammed,
C. Dionisi-Vici,
2013,
European Journal of Human Genetics.
M. Naumann,
R. Wevers,
G. Hoffmann,
2003,
Annals of neurology.
E. Bertini,
C. Tifft,
A. D’Amico,
2011,
Biochimica et biophysica acta.
H. Mandel,
M. Hochuli,
J. Jordan,
2014,
Orphanet Journal of Rare Diseases.
P. Bauer,
M. Patterson,
M. Strupp,
2017,
Neurology. Clinical practice.
C. Dionisi-Vici,
A. Bartuli,
S. Picca,
2008,
Seminars in Nephrology.
P. Malaspina,
C. Dionisi-Vici,
S. Boenzi,
2007,
Neurology.
G. Rizzoni,
C. Dionisi-Vici,
D. Abeni,
2001,
Pediatric Nephrology.
R. Carrozzo,
H. Schägger,
A. Tessa,
2002,
Neuromuscular Disorders.
R. Carrozzo,
W. Craigen,
G. Enns,
2008,
Human mutation.
E. Bertini,
R. Carrozzo,
N. Petit,
2003,
Human mutation.
E. Bertini,
A. Vanderver,
R. Carrozzo,
2016,
Brain : a journal of neurology.
G. Parisi,
D. Martinelli,
C. Dionisi-Vici,
2011,
Molecular genetics and metabolism.
E. Bertini,
M. Klein,
G. Pontrelli,
2012,
Molecular genetics and metabolism.
L. de Meirleir,
P. Divry,
G. Besley,
2002,
American journal of medical genetics.
M. Baumgartner,
T. Suormala,
P. Chinnery,
2016,
Journal of Inherited Metabolic Disease.
E. Bertini,
R. Carrozzo,
M. Zeviani,
2017,
Biochimica et biophysica acta. Molecular basis of disease.
J. Zeman,
M. Couce,
A. Chakrapani,
2016,
Journal of Inherited Metabolic Disease.
M. Baumgartner,
R. Lachmann,
E. Rodrigues,
2015,
Journal of Inherited Metabolic Disease.
T. Hennet,
H. Freeze,
G. Matthijs,
2009,
Human mutation.
A. Tessa,
F. Santorelli,
M. Bonsignore,
2006,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
C. Dionisi-Vici,
M. Donati,
F. Deodato,
2017,
Metabolic Brain Disease.
Euan A Ashley,
Enrico Bertini,
Matthew B Klein,
2019,
PloS one.
C. Dionisi-Vici,
M. Schiff,
H. Ogier de Baulny,
2012,
Molecular genetics and metabolism.
A. Morgan,
P. Gasparini,
L. Giordano,
2013,
Gene.
C. Dionisi-Vici,
A. Maiorana,
2017,
Journal of Inherited Metabolic Disease.
Pierluigi Koch,
A. Fiocchi,
C. Dionisi-Vici,
2014,
Pediatrics.
V. Tiranti,
M. Zeviani,
D. Diodato,
2016,
Brain : a journal of neurology.
Paolo Gasparini,
Brigitte Vollmer,
Massimo Zeviani,
2004,
American journal of human genetics.
S. Watson,
C. Baumann,
J. Klumperman,
2012,
Human mutation.
C. Dionisi-Vici,
R. Angelico,
M. Spada,
2019,
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.
C. Dionisi-Vici,
U. Wendel,
Udo Wendel,
2012
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E. Bertini,
R. Carrozzo,
M. Tartaglia,
2017,
Clinical genetics.
M. Palacín,
A. Zorzano,
A. Ormazabal,
2021,
bioRxiv.
M. Baumgartner,
S. Kölker,
R. Posset,
2018,
Journal of inherited metabolic disease.
G. Rizzoni,
B. Dallapiccola,
C. Dionisi-Vici,
1990,
American journal of medical genetics.
Sheila Unger,
Andrea Superti-Furga,
Ahmet Dursun,
2011,
American journal of medical genetics. Part A.
R. Russell,
H. Prokisch,
C. Klein,
2019,
Genetics in Medicine.
E. Bertini,
M. Simpson,
H. Goebel,
2012,
Nature Genetics.
A. Novelli,
M. Mucciolo,
C. Dionisi-Vici,
2018,
The Journal of pediatrics.
A. Tagliabue,
S. Bertoli,
P. Veggiotti,
2002,
Epilepsy Research.
V. Di Natale,
A. Pession,
C. Dionisi-Vici,
2021,
Molecular genetics and metabolism reports.
M. Baumgartner,
O. Bodamer,
E. Morava,
2009,
Journal of Inherited Metabolic Disease.
N. Blau,
C. Dionisi-Vici,
2014
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C. Dionisi-Vici,
R. Thakker,
K. Meeran,
1994,
Clinical endocrinology.
D. Martinelli,
C. Dionisi-Vici,
J. Davison,
2022,
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.
G. Rizzoni,
B. Dallapiccola,
C. Dionisi-Vici,
1991
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C. Dionisi-Vici,
A. Maiorana,
T. Corsetti,
2020,
Orphanet Journal of Rare Diseases.
M. Genuardi,
C. Dionisi-Vici,
G. Sabetta,
1993,
American journal of medical genetics.
F. Emma,
L. Salviati,
C. Dionisi-Vici,
2011,
International journal of nephrology.
E. Bertini,
R. Carrozzo,
G. Parisi,
2014,
Mitochondrion.
E. Bertini,
D. Hale,
K. Gibson,
1994,
The Journal of pediatrics.
G. Uziel,
A. Burlina,
C. Dionisi-Vici,
2002,
The Journal of pediatrics.
R. Giugliani,
P. Mistry,
C. Dionisi-Vici,
2020,
Molecular genetics and metabolism.
L. Putignani,
C. Dionisi-Vici,
S. Boenzi,
2020,
Journal of inherited metabolic disease.
E. Bertini,
C. Compagnucci,
A. Coppola,
2016,
American journal of human genetics.
I. Harting,
H. Blom,
S. Kölker,
2016,
Neuroradiology.
S. Piovan,
F. Zacchello,
C. Dionisi-Vici,
1995,
Journal of Inherited Metabolic Disease.
H. Blom,
S. Grünert,
K. Kahrizi,
2016,
Journal of Inherited Metabolic Disease.
E. Agolini,
C. Dionisi-Vici,
S. Boenzi,
2022,
Pediatric transplantation.
D. Liccardo,
D. Martinelli,
C. Dionisi-Vici,
2021,
Orphanet Journal of Rare Diseases.
R. Carrozzo,
L. Mannucci,
G. Rizzoni,
2005,
Journal of Inherited Metabolic Disease.
C. Dionisi-Vici,
F. Deodato,
D. Longo,
2008,
Pediatric Radiology.
A. Novelli,
C. Dionisi-Vici,
F. Lepri,
2022,
Frontiers in Endocrinology.
M. Carrozzi,
U. Raucci,
A. Burlina,
2000,
Journal of Inherited Metabolic Disease.
R. Carrozzo,
D. Pilz,
S. Petrini,
2018,
Autophagy.
C. Dionisi-Vici,
A. Maiorana,
2017,
Advances in experimental medicine and biology.
F. Emma,
C. Dionisi-Vici,
S. Boenzi,
2014,
Molecular genetics and metabolism.
G. Andria,
C. Dionisi-Vici,
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