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Stoornissen in de koolhydraatstofwisseling |
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De aminozuurstofwisselingsziekten |
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Stoornissen betreffende de stofwisseling van organische zuren |
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Mitochondriële ziekten |
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Stoornissen in de purine en pyrimidine stofwisseling |
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Stoornissen betreffende de lipoproteïnen en lipiden stofwisseling |
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Porfyrines en haem |
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Metalen |
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Stoornissen van de peroxisomale biogenese |
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Neurotransmitter stoornissen |
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Stoornissen betreffende de
lysosomale enzymen ( Lysosomale stapelingsziekten ) |
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Neurogenetics |
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Stoornissen betreffende de werking en synthese van hormonen |
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Vitaminen |
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Bloed en bloedvormend weefsel |
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Membraantransport systemen |
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Stoornissen betreffende het immuunsysteem en het verdedigingssysteem |
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Connective tissue |
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Spieren |
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Ogen |
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Nieren |
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Longen |
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multi-systeemziekten betreffende de ontwikkeling |
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Hoofdmenu |
Opsomming en indeling:
Er wordt bij deze indeling gebruik gemaakt van de
analogie van het boek " The Metabolic and Molecular Bases of Inherited
Disease " eight edition van Scriver , Beaudet , Sly en Valle, Childs,
Kinzler and Vogelstein ; McGraw-Hill.
ISBN 0079130356
Online: The Metabolic and Molecular Bases of Inherited Disease; The McGraw-Hill Companies
De linken bij de ziekten verwijzen naar:
Online Mendelian Inheritance in Man, OMIM (TM).
McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University
(Baltimore, MD) and National Center for Biotechnology Information,
National Library of Medicine (Bethesda, MD), 2000.
World Wide Web URL:
OMIM: Online Mendelian Inheritance in Man
e-medicine:
Instant access to the minds of medicine
Welcome to the
GeneTests Web site, a publicly funded medical genetics
information resource developed for physicians, other healthcare
providers, and researchers, available at no cost to all interested
persons. Use of this Web site assumes acceptance of the
terms of use.
Enzym classificatie nummers:
EC nummers verwijzen naar ExPASy: Expert Protein
Analysis System, Swiss Institute of Bioinformatics.
http://www.expasy.org
The ExPASy (Expert Protein Analysis System)
proteomics server of the Swiss
Institute of Bioinformatics (SIB) is dedicated to the analysis of
protein sequences and structures as well as 2-D PAGE (Disclaimer
/ References).
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