Skip to content
SGIEM
  • Patients
    • Find a specialist
    • Patient support groups
    • Further links
  • Professionals
    • Adult patients
    • Links
    • Literature
    • Specialized laboratories
    • Porphyrias
    • Find a specialist
    • Patient support groups
  • Meetings and events
    • Archives
  • Sponsors
  • About us
    • Working group adult patients
    • Dietitians
    • Labors
    • SGBOND
    • Lysosomal Storage Disorders (SALS)
    • Membership
  • Members section
  • Contact
    • Impressum
  • en
    • de
    • fr
    • it
Menu Close
  • Patients
    • Find a specialist
    • Patient support groups
    • Further links
  • Professionals
    • Adult patients
    • Links
    • Literature
    • Specialized laboratories
    • Porphyrias
    • Find a specialist
    • Patient support groups
  • Meetings and events
    • Archives
  • Sponsors
  • About us
    • Working group adult patients
    • Dietitians
    • Labors
    • SGBOND
    • Lysosomal Storage Disorders (SALS)
    • Membership
  • Members section
  • Contact
    • Impressum
  • en
    • de
    • fr
    • it

Literature

  1. Home>
  2. Professionals>
  3. Literature

 

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

    titel 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

    titel 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

    titel 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

    titel Link : pdf

  • Peroxisomal disorders (PD)
    Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines Link : pdf

    titel Link : pdf

SGIEM
Universitätsklinik für Kinderheilkunde Inselspital
Freiburgstrasse 15
CH-3010 Bern
Email metabolik@insel.ch
Telefon +41 31 632 2111
Fax +41 31 362 8424

Members Login