Empfehlungen

Hinweis zur Nutzung:
Die auf dieser Seite verlinkten Inhalte und Materialien dienen der Information. Ihre Nutzung und Weiterverwendung erfolgen ausdrücklich auf eigene Verantwortung. Für die Richtigkeit, Vollständigkeit und Aktualität der externen Inhalte übernehmen wir keine Haftung.

Metabolic pathways and their disordersGuidelinesLink
Disorders of amino acid metabolismConsensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficienciesPMID: 38627985
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionPMID: 33595124
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revisionPMID: 30982989
Disorders of carbohydrate metabolismInternational clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upPMID: 27858262
Pompe disease diagnosis and management guidelinePMID: 16702877
Start, switch and stop (triple-S) criteria for enzyme replacement thearyp of late-onset Pompe diasese: European Pompe Consortium recommendation update 2024PMID: 38873957
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)PMID: 39482698
Home infusion therapy for Pompe disease: Recommendations for German-speaking countriesPMID: 33906241
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and GenomicsPMID: 25356975
Glycogen storage disease type III diagnosis and management guidelinesPMID: 20631546 
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)PMID: 30659246
Disorders of fatty acid and ketone body metabolismNutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approachPMID: 33093005
Disorders of energy metabolismPatient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietyPMID: 28749475
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendationsPMID: 34505344
Congenital disorders of glycosilationInternational clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow upPMID: 30740725
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementPMID: 32681750
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationPMID: 32266963
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical an molecular review and clinical management guidelinesPMID: 38703411
Disorders of complex molecule degradationFabry disease revisited: Management and treatment recommendations for adult patientsPMID: 29530533
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus documentPMID: 25885911
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in EuropePMID: 27522145
Critical review of current MPS guidelines and managementPMID: 30143438
Sanfilippo syndrome: consensus guidelines for clinical carePMID: 36303195
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidancePMID: 31142378
International guidelines for the management and treatment of Morquio A syndromePMID: 25346323
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyPMID: 39024860
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B)PMID: 37069638
Consensus clinical management guidelines for Niemann-Pick disease type CPMID: 29625568
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updatePMID: 29431164
Disorders of vitamin and cofactor metabolismConsensus recommendations for the diagnosis treatment, and follow-up of inherited methylation disordersPMID: 27671891
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencyPMID: 27905001
Neurotransmitter disordersConsensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyPMID: 28100251
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesPMID: 32456656
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyPMID: 38452608
Endocrine metabolic diseasesInternational Guidelines for the Diagnosis and Management of HyperinsulinismPMID: 37454648