iNTD registry

Description

The working group developed a web-based patient registry (intd-registry.org) for inherited defects of biogenic amines, pterin and folate metabolism to assess

-> the epidemiology, genotype/phenotype correlation

-> the diagnostic and therapeutic strategies

 -> the impact on the quality of life of patients

-> the outcome of these diseases. 

Coordinators

PD.Dr. Thomas Opladen

University Children´s Hospital Heidelberg

Heidelberg
eMail: email@email.de

Dr. med. Oya Kuseyri

University Children´s Hospital Heidelberg

Heidelberg
eMail: Oya.Kuseyri@med-uni-heidelberg.de

Dr. Àngels Garcia Cazorla

Hospital Sant Joan de
Déu
Barcelona
eMail: agarcia@hsjdbcn.org

Dr. Kathrin Jeltsch

University Children´s Hospital Heidelberg

Heidelberg
eMail: Kathrin.Jeltsch@med.uni-heidelberg.de

Dr. Manju Kurian

UCL Institute of Child
Health
London
eMail: manju.kurian@ucl.ac.uk

Florian Gleich

 

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