Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Confirmation diagnostics in case of suspected congenital metabolic diseases from newborn screening
registered guidelines
Phenylketonurie (PKU), Mitochondriopathien, Konfirmationsdiagnostik, Methylmalonazidurie/Propionazidämie
International clinical guideline for the management of classical galactosemia
Glutaric aciduria type 1
Development stage: S3
in Überarbeitung, öffentliche Konsultationsfassung bis zum 08.04.2022 unter https://www.awmf.org/leitlinien/detail/ll/027-018KF.html
Diagnostics and therapy of hyperlipidaemia in children
Development stage: S2k
Ketogenic Diet
Development stage: S1
UCD GUIDELINE
Development stage: S3
Newborn screening for congenital metabolic disorders and endocrinopathies
Development stage: S2k
Mitochondriopathies in childhood and adolescence, diagnostics and therapeutic approaches
Development stage: S2, valid until 2014
