Recommandations

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

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)

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

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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)

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

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

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

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

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

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Recommandations - NORD The National Organization for Rare Disorders


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

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

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

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

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

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

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