R. Parini
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Sarah Calvo,
Paolo Gasparini,
Massimo Zeviani,
2006,
Nature Genetics.
N. Brunetti‐Pierri,
G. Andria,
Pamela Claudiani,
2015,
Human gene therapy.
U. Ramaswami,
G. Pintos-Morell,
A. Gal,
2013
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R. Giugliani,
S. Jones,
P. Harmatz,
2013,
Molecular genetics and metabolism.
C. Hendriksz,
P. Harmatz,
R. Parini,
2015,
JIMD reports.
B. Garavaglia,
A. Romeo,
R. Parini,
1995,
European Journal of Pediatrics.
R. Parini,
A. M. Lombardi,
F. Menni,
1998,
The Journal of pediatrics.
D. Cooper,
N. Thomas,
T. Beccari,
2009,
Human mutation.
A. Biondi,
R. Parini,
A. Rovelli,
2021,
Molecular genetics and metabolism reports.
R. Guerrini,
A. Salviati,
Martino Calamai,
2019,
Scientific Reports.
G. Lanzi,
F. Lalatta,
A. Selicorni,
1995,
Journal of child neurology.
D. Linder,
A. Morrone,
D. Kovacs,
2012,
The British journal of dermatology.
G. Uziel,
G. Masera,
A. Balduzzi,
2005,
British journal of haematology.
D. Linder,
A. Morrone,
D. Kovacs,
2011
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D. Nosi,
A. Federico,
V. Kimonis,
2005,
Human mutation.
R. Guerrini,
A. Morrone,
R. Parini,
2016,
Clinica chimica acta; international journal of clinical chemistry.
R. Manna,
R. Guerrini,
S. Giglio,
2012,
Clinical genetics.
M. Rudnicki,
J. Oliveira,
F. Weidemann,
2015,
Orphanet Journal of Rare Diseases.
G. Andria,
D. Melis,
A. Burlina,
2005,
Clinical endocrinology.
J. H. van der Lee,
N. Mahlaoui,
M. Offringa,
2011,
Orphanet journal of rare diseases.
C. Giussani,
R. Gaini,
A. Biondi,
2015,
Molecular genetics and metabolism reports.
U. Ramaswami,
R. Parini,
M. Beck,
2011,
Acta paediatrica.
High-Frequency Rhythmic Cortical Myoclonus in a Long-Surviving Patient With Nonketotic Hypergylcemia
F. Panzica,
S. Franceschetti,
F. Mosca,
2008,
Journal of child neurology.
D. Grioni,
R. Parini,
F. Furlan,
2013,
Neuropediatrics.
Irene J. Hoogeveen,
F. de Boer,
T. Derks,
2020,
Journal of inherited metabolic disease.
C. Giussani,
M. Grimaldi,
E. Sganzerla,
2014,
Advances and technical standards in neurosurgery.
P. Ghezzi,
S. Garattini,
M. Salmona,
1980,
Toxicology Letters.
L. Morandi,
R. Parini,
O. V. van Diggelen,
2004,
Journal of Inherited Metabolic Disease.
C. Angelini,
M. Ermani,
G. Siciliano,
2012,
Journal of Neurology.
R. Parini,
C. Corbetta,
2011,
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.
F. Zoulim,
T. Fontanges,
F. Gottrand,
2014,
Journal of hepatology.
Alain,
Lachaux,
F. Zoulim,
2014
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A. Biondi,
R. Parini,
2018,
Italian Journal of Pediatrics.
A. Zanella,
A. Pesenti,
R. Parini,
2018,
Paediatric anaesthesia.
L. de Meirleir,
J. Zeman,
A. Broomfield,
2018,
Acta paediatrica.
E. Lanino,
F. Locatelli,
M. Di Rocco,
2017,
Orphanet Journal of Rare Diseases.
John J. Mitchell,
P. Lu,
J. Medin,
2017,
Biochimica et biophysica acta. Molecular basis of disease.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2017,
Molecular genetics and metabolism.
G. Andria,
D. Melis,
A. Burlina,
2015,
The Journal of pediatrics.
S. Feriozzi,
R. Parini,
2013
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F. Weidemann,
J. Fletcher,
F. Cecchi,
2012,
JIMD reports.
A. Mehta,
G. Pintos-Morell,
K. Nicholls,
2010,
Genetics in Medicine.
A. Tormene,
F. Kruse,
A. Suppiej,
2010
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J. H. van der Lee,
D. Eastwood,
K. White,
2019,
Orphanet Journal of Rare Diseases.
G. Andria,
D. Melis,
C. Dionisi-Vici,
2013,
Hormone Research in Paediatrics.
R. Manna,
A. Pisani,
E. Cassinerio,
2017,
Molecular genetics and metabolism reports.
A. Lund,
A. Tylki-Szymańska,
R. Parini,
2019,
Molecular genetics and metabolism.
D. Martinelli,
C. Dionisi-Vici,
R. Parini,
2019,
Journal of inherited metabolic disease.
Robert A. Matousek,
R. Giugliani,
D. Hughes,
2017,
Orphanet Journal of Rare Diseases.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
C. Pérez-Cerdá,
B. Merinero,
M. Martínez-Pardo,
2008,
Journal of Inherited Metabolic Disease.
S. Feriozzi,
R. Guerrini,
L. Carraresi,
2010,
Biochimica et biophysica acta.
R. Mignani,
M. Filocamo,
R. Guerrini,
2008,
European Journal of Human Genetics.
M. Valsecchi,
B. Bembi,
A. Burlina,
2018,
Orphanet Journal of Rare Diseases.
R. Tomanin,
G. Sersale,
G. Parenti,
2008,
Biotechnology and applied biochemistry.
N. Bresolin,
G. Comi,
G. Scarlato,
2002,
American journal of medical genetics.
F. Pieruzzi,
P. Strisciuglio,
D. Concolino,
2014,
Clinical genetics.
J. Guest,
D. Concolino,
R. Parini,
2011,
European journal of clinical investigation.
A. Mehta,
G. Pintos-Morell,
K. Nicholls,
2010,
Genetics in Medicine.
R. Jaussaud,
U. Ramaswami,
G. Pintos-Morell,
2007,
The British journal of dermatology.
U. Ramaswami,
A. Gal,
R. Parini,
2003,
European Journal of Pediatrics.
D. Rizopoulos,
T. Mongini,
M. Kruijshaar,
2021,
The Lancet. Child & adolescent health.
M. Bonati,
G. Marra,
R. Latini,
1981,
Pediatric Research.
U. Ramaswami,
N. Karabul,
G. Pintos-Morell,
2016,
BMC Ophthalmology.
S. Feriozzi,
P. Strisciuglio,
D. Concolino,
2008,
Clinical genetics.
A. Shaywitz,
M. Bialer,
P. Harmatz,
2015,
Pediatric Research.
F. dall’Olio,
R. Parini,
M. Iascone,
2019,
Glycobiology.
F. dall’Olio,
R. Parini,
M. Trinchera,
2018,
Molecular genetics and metabolism.
U. Ramaswami,
N. Karabul,
G. Pintos-Morell,
2020
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P. Marcolongo,
A. Benedetti,
D. Melis,
1999,
FEBS letters.
G. Diamond,
E. Rappaport,
P. Fortina,
1994,
Journal of Inherited Metabolic Disease.
D. Stull,
I. Wiklund,
U. Ramaswami,
2012,
Health and Quality of Life Outcomes.
G. Andria,
P. Marcolongo,
A. Benedetti,
2005,
European Journal of Pediatrics.
R. Guerrini,
M. Donati,
A. Morrone,
2012,
JIMD reports.
P. de Lonlay,
S. Esposito,
N. Principi,
2015,
Vaccine.
R. Parini,
F. Furlan,
A. Brambilla,
2013,
JIMD reports.
S. Mooney,
R. Guerrini,
J. Thusberg,
2012,
Gene.
W. Chung,
A. Ribes,
V. Iacobazzi,
2004,
Human mutation.
A. Landi,
E. Sganzerla,
L. Fiori,
2015,
Child neurology open.
M. Baumgartner,
T. Suormala,
S. Lorenzl,
2015,
Journal of Inherited Metabolic Disease.
S. di Donato,
J. Saudubray,
B. Garavaglia,
1991,
The Journal of pediatrics.
D. Rabier,
J. Saudubray,
R. Parini,
1993,
Pediatrics.
F. Taroni,
B. Garavaglia,
M. Rimoldi,
1999,
Journal of Inherited Metabolic Disease.
E. Lamantea,
P. Vizziello,
B. Garavaglia,
1998,
European Journal of Pediatrics.
S. Mooney,
R. Guerrini,
G. la Marca,
2014,
Orphanet Journal of Rare Diseases.
A. Ribes,
V. Iacobazzi,
F. Taroni,
2000
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B. Assael,
F. Rusconi,
R. Parini,
1982,
Pediatric infectious disease.
A. Fischer,
J. Tolar,
J. Kurtzberg,
2015,
Blood.
F. Deodato,
R. Parini,
2020,
International journal of molecular sciences.
V. Gallo,
S. Galimberti,
M. Valsecchi,
2021,
The New England journal of medicine.
D. Cooper,
M. Mort,
O. Gabrielli,
2011,
Human mutation.
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy
A. Ficcadenti,
R. Manara,
G. Polonara,
2011,
Journal of Inherited Metabolic Disease.
F. Deodato,
D. Concolino,
R. Parini,
2018,
Italian Journal of Pediatrics.
L. de Meirleir,
J. Zeman,
A. Lund,
2018,
Acta paediatrica.
C. Hendriksz,
R. Giugliani,
D. Hughes,
2015,
Molecular genetics and metabolism.
P. Veys,
M. Renard,
T. D. de Koning,
2017,
Blood advances.
G. Sersale,
R. Parini,
S. Mannarino,
2009,
Cardiology in the Young.
Julie A. Johnson,
E. Teles,
P. Harmatz,
2019,
Molecular genetics and metabolism.
Robert A. Matousek,
T. Cole,
C. Hendriksz,
2017,
Molecular genetics and metabolism.
R. Parini,
F. Bertola,
P. Russo,
2013
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D. Zanetti,
R. Parini,
F. D. Berardino,
2018,
An Excursus into Hearing Loss.
B. Assael,
F. Rusconi,
R. Parini,
1983,
Therapeutic drug monitoring.
E. Bertini,
C. Tifft,
A. D’Amico,
2011,
Biochimica et biophysica acta.
W. Arts,
A. Covanis,
E. Zammarchi,
2000,
Human molecular genetics.
R. Giugliani,
P. Harmatz,
R. Parini,
2013,
Molecular genetics and metabolism.
R. Tomanin,
A. Frigo,
D. Concolino,
2014,
Orphanet Journal of Rare Diseases.
T. Meitinger,
T. Strom,
M. Zeviani,
2012,
American journal of human genetics.
O. Gabrielli,
S. Feriozzi,
E. Zammarchi,
2003,
Journal of medical genetics.
M. Zeviani,
L. Notarangelo,
G. Uziel,
2009,
Journal of hepatology.
M. Baumgartner,
T. Suormala,
P. Chinnery,
2016,
Journal of Inherited Metabolic Disease.
Marni J. Falk,
T. Wieland,
T. Meitinger,
2013,
American journal of human genetics.
P. Vizziello,
G. Marzocchi,
D. Grioni,
2011,
Neuropediatrics.
A. Morgan,
P. Gasparini,
L. Giordano,
2013,
Gene.
G. Sersale,
L. Carraresi,
E. Zammarchi,
2008
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F. Natacci,
A. Selicorni,
M. Bedeschi,
2000,
Clinical dysmorphology.
C. Rosano,
B. Bembi,
S. Grossi,
2013,
European Journal of Human Genetics.
L. Santoro,
R. Manara,
G. Polonara,
2012,
American Journal of Neuroradiology.
S. Mooney,
S. Bianca,
Biao Li,
2015,
Human mutation.
F. Mosca,
R. Troncone,
B. Garavaglia,
2003,
Journal of Pediatric Gastroenterology and Nutrition - JPGN.
N. Bresolin,
G. Scarlato,
D. Melis,
2002,
Human mutation.
G. Lucchini,
A. Padovani,
P. Tonin,
2012,
Journal of Neurology.
G. Uziel,
G. Masera,
A. Balduzzi,
2003,
Bone Marrow Transplantation.
M. Grimaldi,
F. Mauri,
R. Parini,
2011,
Minerva anestesiologica.
B. Burton,
R. Steiner,
R. Giugliani,
2010,
Genetics in Medicine.
John J. Mitchell,
P. Slasor,
B. Burton,
2013,
Molecular genetics and metabolism.
A. Pichiecchio,
G. Colafati,
M. Rocco,
2017,
Muscle & nerve.
B. Assael,
F. Rusconi,
R. Parini,
1982,
Pediatric Research.
E. Zammarchi,
M. Donati,
A. Morrone,
2000,
Human mutation.
B. Bembi,
S. Regis,
M. Filocamo,
2006,
Journal of Molecular Medicine.
G. Mancini,
M. Filocamo,
C. Parazzini,
2003,
AJNR. American journal of neuroradiology.
L. Gagliardi,
E. Radwanski,
R. Parini,
1985,
The Journal of pediatrics.
B. Assael,
F. Rusconi,
R. Parini,
1982,
Developmental pharmacology and therapeutics.
W. Jusko,
B. Assael,
R. Parini,
1980,
Developmental pharmacology and therapeutics.
D. Codazzi,
R. Parini,
M. Langer,
2005,
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies.
G. Borsani,
A. Ballabio,
M. P. Sperandeo,
2000,
American journal of human genetics.
John J. Mitchell,
Robert A. Matousek,
B. Burton,
2016,
Journal of Inherited Metabolic Disease.
R. Guerrini,
G. Sersale,
L. Carraresi,
2008,
Clinica chimica acta; international journal of clinical chemistry.
D. Conconi,
E. Sala,
L. Dalprà,
2018,
Molecular Cytogenetics.
Julie A. Johnson,
E. Teles,
P. Harmatz,
2019,
Journal of inherited metabolic disease.
R. Parini,
A. Rovelli,
A. Cattoni,
2019,
Italian Journal of Pediatrics.
R. Giugliani,
P. Harmatz,
C. Ficicioglu,
2017,
American journal of medical genetics. Part A.
D. Cooper,
M. Mort,
R. Guerrini,
2018,
BMC Medical Genetics.
R. Tomanin,
C. Rosano,
M. Filocamo,
2009,
European Journal of Human Genetics.
G. Uziel,
M. Filocamo,
S. Goldwurm,
2002,
Human mutation.
John J. Mitchell,
Robert A. Matousek,
A. Shaywitz,
2016,
Molecular genetics and metabolism.
M. Carrozzi,
U. Raucci,
A. Burlina,
2000,
Journal of Inherited Metabolic Disease.
E. Sistermans,
M. McDonald,
T. Ben-Omran,
2013,
American journal of human genetics.
A. Bettinelli,
R. Parini,
F. Furlan,
2004,
Journal of Perinatology.
G. Sersale,
R. Santer,
R. Parini,
2006,
Journal of Inherited Metabolic Disease.
G. Andria,
P. Marcolongo,
A. Benedetti,
2015,
JIMD reports.
C. Galimberti,
R. Parini,
S. Mannarino,
2014,
JIMD reports.
A. Edefonti,
L. Berardinelli,
L. Trespidi,
2007,
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.
P. Veys,
M. Renard,
T. D. de Koning,
2017,
Blood advances.
G. Matthijs,
R. Battini,
M. Elia,
2014,
Journal of Neurology.
J. Häberle,
M. Vilaseca,
R. Parini,
2010,
European Journal of Obstetrics, Gynecology, and Reproductive Biology.
M. Zeviani,
E. Lamantea,
M. Filosto,
2005,
Brain : a journal of neurology.
A. Righini,
L. Ramenghi,
F. Mosca,
2003,
Journal of neuroimaging : official journal of the American Society of Neuroimaging.
M. Zeviani,
H. Prokisch,
E. Lamantea,
2015,
JIMD reports.
B. Bembi,
A. Moglia,
Alfredo Costa,
2010,
Journal of Inherited Metabolic Disease.
G. Parenti,
R. Barone,
R. Parini,
2009,
European Journal of Pediatrics.
A. Selicorni,
G. Minniti,
V. Briscioli,
1997,
American journal of medical genetics.
G. Matthijs,
R. Battini,
J. Jaeken,
2021,
The Cerebellum.
B. Borroni,
F. Brancati,
B. Bembi,
2016,
Clinica chimica acta; international journal of clinical chemistry.
B. Merinero,
M. Ugarte,
D. Codazzi,
2013,
JIMD reports.
L. Vitagliano,
A. Zagari,
F. Salvatore,
2010,
Human mutation.
T. Beccari,
P. Heikinheimo,
B. Bembi,
2005,
Human mutation.
R. Parini,
F. Furlan,
S. Di Mauro,
2010,
British journal of nursing.
P. D. Rosa,
L. Chiapparini,
S. Pontesilli,
2021,
The Journal of pediatrics.
G. Parenti,
P. Strisciuglio,
E. Zammarchi,
2002,
Molecular genetics and metabolism.
D. Concolino,
R. Parini,
Daniela Concolino,
2014,
European journal of internal medicine.
P. Malaspina,
G. Sanna,
R. Parini,
2019,
Metabolic Brain Disease.
C. Galimberti,
R. Cancello,
R. Parini,
2019,
Journal of inherited metabolic disease.
N. Balato,
M. Rocco,
P. Borgogni,
1986,
Journal of Inherited Metabolic Disease.
Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
G. Siciliano,
R. Mignani,
R. Manara,
2008,
Journal of Neurology, Neurosurgery, and Psychiatry.
U. Ramaswami,
N. Karabul,
G. Pintos-Morell,
2020,
Drug design, development and therapy.
U. Ramaswami,
G. Pintos-Morell,
R. Parini,
2007,
Acta paediatrica.
P. Beck‐Peccoz,
L. Persani,
G. Radetti,
2001,
European journal of endocrinology.
Julie A. Johnson,
E. Teles,
P. Harmatz,
2018
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S. Mooney,
S. Bianca,
Biao Li,
2015,
Human mutation.
John J. Mitchell,
P. Slasor,
B. Burton,
2015,
Molecular genetics and metabolism.
M. Bonati,
G. Marra,
R. Latini,
1981,
Developmental pharmacology and therapeutics.
C. Eng,
U. Ramaswami,
R. Giugliani,
2009,
Pediatrics.