Links und Literatur

Links

MetabERN : European Reference Network for Hereditary Metabolic Disorders
metabERN.eu
SSIEM : Society for the study of inborn errors of metabolism
ssiem.org
BIMDG : British inherited metabolic diseases group
bimdg.org.uk
Gesellschaft für Angeborene Stoffwechselstörungen e.V.

gfas.de

SFEIM : Société française pour l’étude des erreurs innées du métabolisme
French society for the study of inborn errors of metabolism

sfeim.org

SIMMESN : Società Italiana per lo studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale
Italian society for the study of the inherited inborn errors of metabolism and the neonatal screening

www.simmesn.it

KOSEK: Nationale Koordination Seltene Krankheiten
kosekschweiz.ch
Netzwerk für seltene Stoffwechselkrankheiten

Réseau des prestataires de soins pour les maladies métaboliques rares

Literatur

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

The complete European guidelines on phenylketonuria: diagnosis and treatment

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up 

Ernährung bei Galaktosämie Merkblatt für Jugendliche und Erwachsene

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)

Alimentation pauvre en galactose pour enfants et adolescents jusquà 14 ans

Galaktosearme Ernaehrung Patientenblatt Kinder

Teneur en lactose et galactose de produits laitiers

Galaktosearme Ernaehrung Galaktoseliste Milchprodukte für Kinder und Jugendliche bis 14

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

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

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

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

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Nachsorge von Patienten mit Porphyrien in der Schweiz Koordination innerhalb des Netzwerks für seltene Krankheiten und des Schweizerischen Referenzzentrums für Porphyrien.

Organization of the follow-up of patients with porphyrias in Switzerland – coordination within the network for rare diseases and the Swiss Reference Center for porphyrias