The European Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency, written as part of the European Network and Registry for Homocystinurias and Methylations Defects (E-HOD) project, are now published in the Journal of Inherited Metabolic Disease. The guidelines provide recommendations to health professionals involved in the diagnosis and management of CBS deficiency and are based on a systematic review of the literature. The recommendations also cover matters such as pregnancy and quality of life in CBS deficiency. The Guidelines can be found here.
Clinical Guidelines for CBS Deficiency
