PKDeep
Université Catholique De Lille
Institutional data
Institution: Université Catholique De Lille
Country: France
Website: http://www.univ-catholille.fr/
Department: Department of Hematology
Website: http://www.univ-catholille.fr/
Department e-mail: Sec_Onco_Hemato_SV@ghicl.net
Department phone: 0033 320874532
Contact persons: Anne Lambilliote
Department activity: Clinical management, Diagnostic
Institution's activity
2024
2023
2022
2021
2020
2019
Total number of PKD patients in follow-up: 14
2018
Total number of PKD patients in follow-up: 14
2017
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 14
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