R Parini

Affiliations

Metabolic Disease Unit, Pediatric Clinic, Fondazione MBBM, San Gerardo University Hospital, Monza, Italy.

Publications (17)

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.

Molecular genetics and metabolism

Avec: N Guffon , A Tylki-Szymanska , L Borgwardt , A M Lund , M Gil-Campos , R Parini , J B Hennermann

Chronic liver involvement in urea cycle disorders.

Journal of inherited metabolic disease

Avec: Giusy Ranucci , Miriam Rigoldi , Giovanna Cotugno , Silvia Maria Bernabei , Alessandra Liguori , Serena Gasperini , Bianca Maria Goffredo , Diego Martinelli , Lidia Monti , Paola Francalanci , Manila Candusso , Rossella Parini , Carlo Dionisi-Vici

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Journal of inherited metabolic disease

Avec: Paul R Harmatz , Christina Lampe , Rossella Parini , Reena Sharma , Elisa L Teles , Julie Johnson , Debbie Sivam , Zlatko Sisic

Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.

Glycobiology

Avec: Rossella Indellicato , Rossella Parini , Ruben Domenighini , Nadia Malagolini , Maria Iascone , Serena Gasperini , Nicoletta Masera , Fabio dall'Olio , Marco Trinchera

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.

Drug design, development and therapy

Avec: Rossella Parini , Guillem Pintos-Morell , Julia B Hennermann , Ting-Rong Hsu , Nesrin Karabul , Vasiliki Kalampoki , Andrey Gurevich , Uma Ramaswami , Auteur inconnu

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Cerebellum (London, England)

Avec: Fabio Pettinato , Giovanni Mostile , Roberta Battini , Diego Martinelli , Annalisa Madeo , Elisa Biamino , Daniele Frattini , Domenico Garozzo , Serena Gasperini , Rossella Parini , Fabio Sirchia , Giuseppe Sortino , Luisa Sturiale , Gert Matthijs , Amelia Morrone , Maja Di Rocco , Renata Rizzo , Jaak Jaeken , Agata Fiumara , Rita Barone

Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.

Science translational medicine

Avec: Giulia Consiglieri , Francesca Tucci , Maurizio De Pellegrin , Barbara Guerrini , Alessandro Cattoni , Giulia Risca , Stefano Scarparo , Marina Sarzana , Silvia Pontesilli , Renata Mellone , Serena Gasperini , Stefania Galimberti , Paolo Silvani , Chiara Filisetti , Silvia Darin , Giulia Forni , Simona Miglietta , Ludovica Santi , Marcella Facchini , Ambra Corti , Francesca Fumagalli , Maria Pia Cicalese , Valeria Calbi , Maddalena Migliavacca , Federica Barzaghi , Francesca Ferrua , Vera Gallo , Salvatore Recupero , Daniele Canarutto , Matteo Doglio , Lucia Tedesco , Nicola Volpi , Attilio Rovelli , Giancarlo la Marca , Maria Grazia Valsecchi , Stefano Zancan , Fabio Ciceri , Luigi Naldini , Cristina Baldoli , Rossella Parini , Bernhard Gentner , Alessandro Aiuti , Maria Ester Bernardo

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Clinical dysmorphology

Avec: Anna Bertolini , Miriam Rigoldi , Annalia Cianflone , Raffaella Mariani , Alberto Piperno , Francesco Canonico , Graziella Cefalo , Francesca Carubbi , Alessandro Simonati , Maria Letizia Urban , Tommaso Beccari , Rossella Parini

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.

International journal of molecular sciences

Avec: Rossella Parini , Federica Deodato

The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series.

Italian journal of pediatrics

Avec: A Cattoni , S Motta , N Masera , S Gasperini , A Rovelli , R Parini

Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Molecular genetics and metabolism

Avec: Christina Lampe , Paul R Harmatz , Rossella Parini , Reena Sharma , Elisa Leão Teles , Julie Johnson , Debbie Sivam , Zlatko Sisic

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

The Lancet. Child & adolescent health

Avec: Imke Anne Maartje Ditters , Hidde Harmen Huidekoper , Michelle Elisabeth Kruijshaar , Dimitris Rizopoulos , Andreas Hahn , Tiziana Enrica Mongini , François Labarthe , Marine Tardieu , Brigitte Chabrol , Anais Brassier , Rossella Parini , Giancarlo Parenti , Nadine Anna Maria Elisabeth van der Beek , Ans Tjitske van der Ploeg , Johanna Maria Pieternel van den Hout , Auteur inconnu

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.

Journal of applied physiology (Bethesda, Md. : 1985)

Avec: Sabrina Ravaglia , Alberto Malovini , Serena Cirio , Cesare Danesino , Paola De Filippi , Maurizio Moggio , Tiziana Mongini , Lorenzo Maggi , Serena Servidei , Andrea Vianello , Antonio Toscano , Paola Tonin , Maria Antonietta Maioli , Rossella Parini , Massimiliano Filosto , Grazia Crescimanno , Sebastiano Arceri , Manuela Piran , Annalisa Carlucci

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Scientific reports

Avec: Rodolfo Tonin , Anna Caciotti , Elena Procopio , Rita Fischetto , Federica Deodato , Maria Margherita Mancardi , Maja Di Rocco , Anna Ardissone , Alessandro Salviati , Antonio Marangi , Pietro Strisciuglio , Giusi Mangone , Arianna Casini , Silvia Ricci , Agata Fiumara , Rossella Parini , Francesco Saverio Pavone , Renzo Guerrini , Martino Calamai , Amelia Morrone

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Orphanet journal of rare diseases

Avec: Gé-Ann Kuiper , Eveline J Langereis , Sandra Breyer , Marco Carbone , René M Castelein , Deborah M Eastwood , Christophe Garin , Nathalie Guffon , Peter M van Hasselt , Pauline Hensman , Simon A Jones , Vladimir Kenis , Moyo Kruyt , Johanna H van der Lee , William G Mackenzie , Paul J Orchard , Neil Oxborrow , Rossella Parini , Amy Robinson , Elke Schubert Hjalmarsson , Klane K White , Frits A Wijburg

Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.

Journal of inherited metabolic disease

Avec: Alessandra Brambilla , Maria L Bianchi , Raffaella Cancello , Cinzia Galimberti , Serena Gasperini , Roberta Pretese , Miriam Rigoldi , Serena Tursi , Rossella Parini

"Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients".

Molecular genetics and metabolism reports

Avec: Alessandro Cattoni , Sofia Chiaraluce , Serena Gasperini , Silvia Molinari , Andrea Biondi , Attilio Rovelli , Rossella Parini

Réseau de co-auteurs

Rossella Parini 15 collaborations

Serena Gasperini 6 collaborations

Miriam Rigoldi 3 collaborations

Diego Martinelli 2 collaborations

Paul R Harmatz 2 collaborations

Christina Lampe 2 collaborations

Reena Sharma 2 collaborations

Julie Johnson 2 collaborations

Debbie Sivam 2 collaborations

Zlatko Sisic 2 collaborations

None None 2 collaborations

Amelia Morrone 2 collaborations

Maja Di Rocco 2 collaborations

Agata Fiumara 2 collaborations

Alessandro Cattoni 2 collaborations

Attilio Rovelli 2 collaborations

Federica Deodato 2 collaborations

N Guffon 1 collaboration

A Tylki-Szymanska 1 collaboration

L Borgwardt 1 collaboration

A M Lund 1 collaboration

M Gil-Campos 1 collaboration

J B Hennermann 1 collaboration

Giusy Ranucci 1 collaboration

Giovanna Cotugno 1 collaboration

Silvia Maria Bernabei 1 collaboration

Alessandra Liguori 1 collaboration

Bianca Maria Goffredo 1 collaboration

Lidia Monti 1 collaboration

Paola Francalanci 1 collaboration

Manila Candusso 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Elisa L Teles 1 collaboration

Rossella Indellicato 1 collaboration

Ruben Domenighini 1 collaboration

Nadia Malagolini 1 collaboration

Maria Iascone 1 collaboration

Nicoletta Masera 1 collaboration

Fabio dall'Olio 1 collaboration

Marco Trinchera 1 collaboration

Guillem Pintos-Morell 1 collaboration

Julia B Hennermann 1 collaboration

Ting-Rong Hsu 1 collaboration

Nesrin Karabul 1 collaboration

Vasiliki Kalampoki 1 collaboration

Andrey Gurevich 1 collaboration

Uma Ramaswami 1 collaboration

Fabio Pettinato 1 collaboration

Giovanni Mostile 1 collaboration

Roberta Battini 1 collaboration

Annalisa Madeo 1 collaboration

Elisa Biamino 1 collaboration

Daniele Frattini 1 collaboration

Domenico Garozzo 1 collaboration

Fabio Sirchia 1 collaboration

Giuseppe Sortino 1 collaboration

Luisa Sturiale 1 collaboration

Gert Matthijs 1 collaboration

Renata Rizzo 1 collaboration

Jaak Jaeken 1 collaboration

Rita Barone 1 collaboration

Giulia Consiglieri 1 collaboration

Francesca Tucci 1 collaboration

Maurizio De Pellegrin 1 collaboration

Barbara Guerrini 1 collaboration

Giulia Risca 1 collaboration

Stefano Scarparo 1 collaboration

Marina Sarzana 1 collaboration

Silvia Pontesilli 1 collaboration

Renata Mellone 1 collaboration

Stefania Galimberti 1 collaboration

Paolo Silvani 1 collaboration

Chiara Filisetti 1 collaboration

Silvia Darin 1 collaboration

Giulia Forni 1 collaboration

Simona Miglietta 1 collaboration

Ludovica Santi 1 collaboration

Marcella Facchini 1 collaboration

Ambra Corti 1 collaboration

Francesca Fumagalli 1 collaboration

Maria Pia Cicalese 1 collaboration

Valeria Calbi 1 collaboration

Maddalena Migliavacca 1 collaboration

Federica Barzaghi 1 collaboration

Francesca Ferrua 1 collaboration

Vera Gallo 1 collaboration

Salvatore Recupero 1 collaboration

Daniele Canarutto 1 collaboration

Matteo Doglio 1 collaboration

Lucia Tedesco 1 collaboration

Nicola Volpi 1 collaboration

Giancarlo la Marca 1 collaboration

Maria Grazia Valsecchi 1 collaboration

Stefano Zancan 1 collaboration

Fabio Ciceri 1 collaboration

Luigi Naldini 1 collaboration

Cristina Baldoli 1 collaboration

Bernhard Gentner 1 collaboration

Alessandro Aiuti 1 collaboration

Maria Ester Bernardo 1 collaboration

Anna Bertolini 1 collaboration

Annalia Cianflone 1 collaboration

Raffaella Mariani 1 collaboration

Alberto Piperno 1 collaboration

Francesco Canonico 1 collaboration

Graziella Cefalo 1 collaboration

Francesca Carubbi 1 collaboration

Alessandro Simonati 1 collaboration

Maria Letizia Urban 1 collaboration

Tommaso Beccari 1 collaboration

A Cattoni 1 collaboration

S Motta 1 collaboration

N Masera 1 collaboration

S Gasperini 1 collaboration

A Rovelli 1 collaboration

Elisa Leão Teles 1 collaboration

Imke Anne Maartje Ditters 1 collaboration

Hidde Harmen Huidekoper 1 collaboration

Michelle Elisabeth Kruijshaar 1 collaboration

Dimitris Rizopoulos 1 collaboration

Andreas Hahn 1 collaboration

Tiziana Enrica Mongini 1 collaboration

François Labarthe 1 collaboration

Marine Tardieu 1 collaboration

Brigitte Chabrol 1 collaboration

Anais Brassier 1 collaboration

Giancarlo Parenti 1 collaboration

Nadine Anna Maria Elisabeth van der Beek 1 collaboration

Ans Tjitske van der Ploeg 1 collaboration

Johanna Maria Pieternel van den Hout 1 collaboration

Sabrina Ravaglia 1 collaboration

Alberto Malovini 1 collaboration

Serena Cirio 1 collaboration

Cesare Danesino 1 collaboration

Paola De Filippi 1 collaboration

Maurizio Moggio 1 collaboration

Tiziana Mongini 1 collaboration

Lorenzo Maggi 1 collaboration

Serena Servidei 1 collaboration

Andrea Vianello 1 collaboration

Antonio Toscano 1 collaboration

Paola Tonin 1 collaboration

Maria Antonietta Maioli 1 collaboration

Massimiliano Filosto 1 collaboration

Grazia Crescimanno 1 collaboration

Sebastiano Arceri 1 collaboration

Manuela Piran 1 collaboration

Annalisa Carlucci 1 collaboration

Rodolfo Tonin 1 collaboration

Anna Caciotti 1 collaboration

Elena Procopio 1 collaboration

Rita Fischetto 1 collaboration

Maria Margherita Mancardi 1 collaboration

Anna Ardissone 1 collaboration

Alessandro Salviati 1 collaboration

Antonio Marangi 1 collaboration

Pietro Strisciuglio 1 collaboration

Giusi Mangone 1 collaboration

Arianna Casini 1 collaboration

Silvia Ricci 1 collaboration

Francesco Saverio Pavone 1 collaboration

Renzo Guerrini 1 collaboration

Martino Calamai 1 collaboration

Gé-Ann Kuiper 1 collaboration

Eveline J Langereis 1 collaboration

Sandra Breyer 1 collaboration

Marco Carbone 1 collaboration

René M Castelein 1 collaboration

Deborah M Eastwood 1 collaboration

Christophe Garin 1 collaboration

Nathalie Guffon 1 collaboration

Peter M van Hasselt 1 collaboration

Pauline Hensman 1 collaboration

Simon A Jones 1 collaboration

Vladimir Kenis 1 collaboration

Moyo Kruyt 1 collaboration

Johanna H van der Lee 1 collaboration

William G Mackenzie 1 collaboration

Paul J Orchard 1 collaboration

Neil Oxborrow 1 collaboration

Amy Robinson 1 collaboration

Elke Schubert Hjalmarsson 1 collaboration

Klane K White 1 collaboration

Frits A Wijburg 1 collaboration

Alessandra Brambilla 1 collaboration

Maria L Bianchi 1 collaboration

Raffaella Cancello 1 collaboration

Cinzia Galimberti 1 collaboration

Roberta Pretese 1 collaboration

Serena Tursi 1 collaboration

Sofia Chiaraluce 1 collaboration

Silvia Molinari 1 collaboration

Andrea Biondi 1 collaboration