Littérature

 

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

Congenital disorders of glycosylation and disorders of intracellular trafficking (CDG)

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Link : pdf

Disorder of pyruvate metabolism, krebs cycle defects, mitochondrial oxidative phosphorylationdisorders of thiamine transport and metabolism (PM-MD)

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Link : pdf

Disorders of Neuromodulators and other small molecules (NOMS)

Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations
Link : pdf

Lysosomal storage disorders (LSD)

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
Link : pdf

Peroxisomal disorders (PD)

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Link : pdf
SGIEM
Universitätsklinik für Kinderheilkunde Inselspital
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