|
|
|
|
|
|
|
|
|
|
|
|
Stoornissen in de koolhydraatstofwisseling |
|
|
De aminozuurstofwisselingsziekten |
|
|
Stoornissen betreffende de stofwisseling van organische zuren |
|
|
Mitochondriële ziekten |
|
|
Stoornissen in de purine en pyrimidine stofwisseling |
|
|
Stoornissen betreffende de lipoproteïnen en lipiden stofwisseling |
|
|
Porfyrines en haem |
|
|
Metalen |
|
|
Stoornissen van de peroxisomale biogenese |
|
|
Neurotransmitter stoornissen |
|
|
Stoornissen betreffende de lysosomale enzymen ( Lysosomale stapelingsziekten ) |
|
|
Neurogenetics |
|
|
Stoornissen betreffende de werking en synthese van hormonen |
|
|
Vitaminen |
|
|
Bloed en bloedvormend weefsel |
|
|
Membraantransport systemen |
|
|
Stoornissen betreffende het immuunsysteem en het verdedigingssysteem |
|
|
Connective tissue |
|
|
Spieren |
|
|
Ogen |
|
|
Nieren |
|
|
Longen |
|
|
multi-systeemziekten betreffende de ontwikkeling |
|
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).
|
|
|
|
|
|
