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