Literatur
Amino and organic acids-related disorder (AOA)
| Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency Link : pdf |
| Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency Link : pdf |
| Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia Link : pdf |
| Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision Link : pdf |
| Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision Link : pdf |
| The complete European guidelines on phenylketonuria: diagnosis and treatment Link : pdf |
Carbohydrate, fatty acid oxidation and ketone bodies disorders (C-FAO)
| International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up Link : pdf |
| Ernährung bei Galaktosämie Merkblatt für Jugendliche und Erwachsene Link : pdf |
| Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the Amerian College of Medical Genetics and Genomics (ACMG) Link : pdf |
Link : pdf
Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)
Disorder of pyruvate metabolism, krebs cycle defects, mitochondrial oxidative phosphorylationdisorders of thiamine transport and metabolism (PM-MD)
Disorders of Neuromodulators and other small molecules (NOMS)
Lysosomal storage disorders (LSD)
Peroxisomal disorders (PD)