Members

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

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