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Ressources Metagene Knowledgebase

Data maintenance is carried out regularly on the basis of publications, congress reports and personal communication. The knowledgebase supports training for young professionals, and is functioning as "watch dog" for more experienced metabolic clinicians. The knowledgebase is open to public.

  • OMIM (2013) Online Mendelian Inheritance in Man®, An Online Catalog of Human Genes and Genetic Disorders
    http://www.omim.org 1960-2020

  • PubMed®
    https://pubmed.ncbi.nlm.nih.gov/ 1996-2020

  • IEMbase © Inborn Errors of Metabolism Knowledgebase
    http://www.iembase.org/index.asp

  • The Human Metabolome Database (HMDB)
    https://hmdb.ca/proteins/HMDBP00388

  • UniProt
    https://www.uniprot.org/

  • orphanet - The portal for rare diseases and orphan drugs
    https://www.orpha.net/consor4.01/www/cgi-bin/Disease.php?lng=EN

  • Human Phenoty Ontology (HPO)
    https://hpo.jax.org/app/

  • Expasy Enzyme nomenclature database
    https://www.expasy.org/

  • BRENDA The Comprehensive Enzyme Information System
    https://www.brenda-enzymes.org/index.php

  • ICD Classification (WHO)
    https://www.who.int/classifications/icd/en/

  • Gerald M Fenichel Fenichel's Clinical Pediatric Neurology 8rd edition, 2019

  • KyriakieSarafoglou (Author), Georg Hoffmann (Author), Karl Roth (Author) Pediatric Endocrinology and Inborn Errors of Metabolism 2nd edition, 2017

  • Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L (eds) Inherited Metabolic Diseases 2017

  • Hoffmann, Georg F., Zschocke, Johannes, Nyhan, William L. (eds) Inherited Metabolic Diseases, A Clinical Approach 2nd edition, 2017

  • Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds) Inborn Metabolic Diseases 6th edition, 2016

  • Hansjosef Böhles Stoffwechselerkrankungen im Kindes-und Jugendalter 2016

  • Handbook of 1H-NMR spectroscopy in inborn errors of metabolism 3rd etion, 2014

  • Nenad Blau, Marinus Duran, K. Michael Gibson, Carlo Dionisi-Vici (eds) Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases 2014

  • Johannes Zschocke, Georg F. Hoffmann Vademecum Metabolicum 4. Auflage, 2012

  • John Fernandes, Jean-Marie Saudubra, Georges Van den Berghe (eds) Inborn Metabolic Diseases 4th edition, 2006

  • Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases 2nd edition, 2003

  • Scriver CR, Beaudet AL, Sly WS and Valle D (eds) The metabolic and molecular bases of inherited disease 8th edition, 2001

  • Gilles Lyon, Raymond D. Adams, Edwin H. Kolodny Neurology of hereditary metabolic diseases of children 2nd edition,1996

  • Sciver CR,. Beaudet AL, Sly WS, Valle D, Stanbury JB, Wyngaarden JB et al. The metabolic and molecular bases of inherited disease 7th edition, 1995

  • Gerald M Fenichel Fenichel's Clinical Pediatric Neurology 3rd edition, 1988

  • RAMEDIS Rare Metabolic Diseases Database
    https://agbi.techfak.uni-bielefeld.de/ramedis/htdocs/dm-author/case_lab_edit.php https://pubmed.ncbi.nlm.nih.gov/11604876

  • OTHERS Own experience Personal communication 1975-2020

  • Hooshang Taybi, Ralph S Lachmann (eds) Radiology of syndromes, metabolic disorders, and skeletal dysplasias 4th edition
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