PKDeep
Erasmus Mc
Institutional data
Institution: Erasmus Mc
Country: Netherlands
Website: https://www.erasmusmc.nl/
Department: Pediatric Haemtology
Website: https://www.erasmusmc.nl/
Department e-mail: kinderhematologie@erasmusmc.nl
Department phone: 107040704
Contact persons: E. Huisman
Department activity: Clinical management, Diagnostic
Institution's activity
2024
2023
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: 4
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: Yes