PKDeep

Charité - Universitätsmedizin Berlin

Institutional data

Institution: Charité - Universitätsmedizin Berlin

Country: Germany

Website: www.charite.de


Department: Dept. of Pediatric Oncology and Hematology

Website: www.charite.de

Department e-mail: kinderonkologie@charite.de

Department phone: +49(0)30450566004

Contact persons: Stephan Lobitz

Department activity: Clinical management

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 4


2018

Total number of PKD patients in follow-up: 4


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 0

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

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: Yes