Members

Azienda Ospedaliera-Università Di Padova

Institutional data

Institution: Azienda Ospedaliera-Università Di Padova

Country: Italy

Website: http://www.sanita.padova.it/


Department: Department of Child and Maternal Health, Clinic of Ped Hematol.Oncol

Website: http://www.sanita.padova.it/

Department e-mail: oncoemato.ped@aopd.veneto.it

Department phone: 0039 049 821 8030

Contact persons: Raffaella Colombatti, Laura Sainati, Caterina Putti

Department activity: Clinical management

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 3


2018

Total number of PKD patients in follow-up: 3


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 5

Method used to perform PK activity assay?: Other

Externalize PK activity quantitative assay: Yes


Perform PKLR genetic characterization: No

Externalize PKLR genetic characterization: Yes


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: No