Cazzorla Chiara - Neurological Unit, St. Bassiano Hospital, Bassano del Grappa, Consultant in Neurometabolic Hereditary Diseases at the University Hospital of Padua, Italy.

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论文共 37 篇作者统计合作学者相似作者

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Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy

Marco Bani,Stefania Caviglia, Giulia Bensi, Mirsada Sarah Carcereri, Benedetta Greco, Elisa Lastrucci, Pamela Massa,Sofia Vissani,Chiara Cazzorla

European Journal of Pediatricsno. 2 (2024): 965-969

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Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers

Valentina Rovelli,Annamaria Dicintio,Chiara Cazzorla

Current medical research and opinion（2024）

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Effectiveness of corticosteroid treatment in a case of perinatal lethal Gaucher disease diagnosed by newborn screening

Vincenza Gragnaniello,Daniela Gueraldi,Chiara Cazzorla, Andrea Puma, Anna Commone,Pamela Massa, Christian Loro,Alessandro Burlina,Alberto Burlina

Molecular Genetics and Metabolismno. 2 (2023): 52-52

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Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Vincenza Gragnaniello,Daniela Gueraldi,Andrea Puma,Anna Commone,Chiara Cazzorla, Christian Loro,Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza,Leonardo Salviati,Ronald J A Wanders,Alberto Burlina

Orphanet journal of rare diseasesno. 1 (2023): 358-358

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Newborn screening for Gaucher disease in Italy: Birth prevalence and outcome

Alberto Burlina,Vincenza Gragnaniello,Daniela Gueraldi,Chiara Cazzorla, Andrea Puma, Anna Commone, Pamela Massa, Christian Loro,Alessandro Burlina

Molecular Genetics and Metabolismno. 2 (2023): 107039-107039

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Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in phenylketonuria

Sara Parolisi,Chiara Montanari,Elisa Borghi,Chiara Cazzorla,Juri Zuvadelli,Martina Tosi,Rita Barone,Giulia Bensi, Cristina Bonfanti,Carlo Dionisi Vici,Giacomo Biasucci,Alberto Burlina,

Pharmacological research (2023): 106952-106952

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Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria

Filippo Manti,Stefania Caviglia,Chiara Cazzorla,Annamaria Dicintio,Andrea Pilotto,Alessandro P. Burlina

Orphanet J Rare Dis（2023）

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Long-term follow-up of a patient with neonatal form of Gaucher disease

Vincenza Gragnaniello,Chiara Cazzorla,Daniela Gueraldi, Christian Loro,Pamela Massa,Andrea Puma,Mara Cananzi,Leonardo Salviati,Alessandro P. Burlina,Alberto B. Burlina

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 7 (2023): 1917-1922

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Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency

Vincenza Gragnaniello,Daniela Gueraldi,Andrea Puma,Anna Commone, Christian Loro,Chiara Cazzorla,Johannes Häberle,Alberto B Burlina

Journal of pediatric endocrinology & metabolism : JPEMno. 9 (2023): 873-878

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Stephanie Maissen-Abgottspon,Raphaela Muri,Michel Hochuli,Péter Reismann,András Gellért Barta,Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras,Alessandro P. Burlina,Alberto B. Burlina,Chiara Cazzorla, Jessica Carretta,Roman Trepp,

Orphanet journal of rare diseasesno. 1 (2023): 1-12

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