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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 Alimentation pauvre en galactose pour enfants et adolescents jusquà 14 ans Link : pdf Galaktosearme Ernaehrung Patientenblatt Kinder Link : pdf Teneur en lactose et galactose de produits laitiers Link : pdf Galaktosearme Ernaehrung Galaktoseliste Milchprodukte für Kinder und Jugendliche bis 14 Link : pdf titel 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)