Members
Cub Hopital Erasme Lhub-Ulb
Institutional data
Institution: Cub Hopital Erasme Lhub-Ulb
Country: Belgium
Website: https://www.erasme.ulb.ac.be/
Department: Clinical Chemistry
Website: https://www.erasme.ulb.ac.be/
Department e-mail: secretariatand@LHUB-ULB.be
Department phone: 3225553427
Contact persons: Beatrice Gulbis
Department activity: Diagnostic
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 1
2018
Total number of PKD patients in follow-up: 1
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 12
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Other RBC enzyme activity assays you performed: Hexokinase
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: No
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes