G2M

Les recommandations

Recommandations françaises

Déficit en acyl-CoA-déshydrogénase des acides gras à chaîne moyenne (MCAD) : Consensus français pour le dépistage, le diagnostic et la prise en charge (Archives de pédiatrie, 2012).

Fiche recommandation

Consensus national sur la prise en charge des enfants dépistés avec une hyperphénylalaninémie (Archives de Pédiatrie, 2005). 

Fiche recommandation

Recommandations européennes

Diagnosis and management of glutaric aciduria type I – revised recommendations

Fiche recommandation

Proposed guidelines for the diagnosis and management of methylmalonic and propionic academia (Orphanet Journal of Rare Diseases, 2014)  

Fiche recommandation

Suggested guidelines for the diagnosis and management of urea cycle disorders (Orphanet Journal of Rare Disease, 2012)

Fiche recommandation

Toward a consensus in the laboratory diagnostics of Fabry disease - Recommendations of a European Expert Group (JIMD,2009)

Fiche recommandation

Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1 : results of a questionnaire and proposed guidelines (JIMD, 2012)

Fiche recommandation

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency (Genetics in Medicine, February 2014)

Fiche recommandation

Treatment recommendations in long-chain fatty acid oxidation defects : consensus from a workshop (JIMD, 2009)

Fiche recommandation

Recommandations internationales

Diagnosis and management of glutaric aciduria type I-revised recommendations (JIMD, 2011).

Fiche recommandation

Nutrition management guideline for maple syrup urine disease: an evidence and consensus based approach (Molecular genetics and metabolism, 2014).  

Fiche recommandation

Optimal clinical management of children receiving the ketogenic diet: recommendations of the international ketogenic diet study group (Epilepsia, 2009).

Fiche recommandation

Recommandations - NORD The National Organization for Rare Disorders

Physician's Guide to the Homocystinurias (Nord Guides for Physicians / N°11).

Fiche recommandation

The Physician's Guide to Urea Cycle Disorders (Nord Guide for Physicians).

Fiche recommandation

The Physician's Guide to Gaucher Disease (Nord Guide for Physicians).

Fiche recommandation

The Physician's Guide to Pompe Disease (Glycogen storage disease, Type II; Acid maltase deficiency), (Nord Guide for Physicians).

Fiche recommandation

The Physician's Guide to Lipoprotein Lipase Deficieny (Nord Guide for Physicians).

Fiche recommandation

The Physician's Guide to Tyrosinemia Type 1 (Nord Guide for Physicians).

Fiche recommandation