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Miscellaneous

Charles Scriver Online Courses
David Rosenblatt Online Chapters
Nancy Braverman Online Courses
Jacques Genest Online Courses
Peter Roughley Online Courses
Serge Melancon Online Courses
  Lenore Beitel     Online Courses
Eric Shoubridge Online Courses
Molecular Genetics Laboratory
Residency Program Lectures
Useful Tools
Useful free software and Open Source Software
Website Affiliates
Links to other Web Site Affiliates

Databases

BH4 Project
Carrier Screening Program
CASRdb
Calcium Sensing Receptor Database
CellBank
Human Cell Repository
CYSdb
Cystinuria Database
HEXdb
HEXA, HEXB and GM2A Gene Loci Databases
PAHdb
Phenylalanine Hydroxylase Locus Specific Database
PHEXdb
X-linked hypophosphatemia Database
SYNE1
Related Autosomal Recessive Cerebellar Ataxia
SACSIN
ARSACS (SACSIN) Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Waystation
Centre for the Submission of Genome Variations
dbPEX
dbPEX, PEX Gene Database

Serge Melancon Online Courses

Lysosomes 2010 Part 1A 2 678 272 Bytes
Lysosomes 2010 Part 1B 1 579 008 Bytes
LSD 2010 part 2A 414 208 Bytes
LSD 2010 Part 3A Clinical Profiles 4 245 504 Bytes
LSD 2010 Part 3B Clinical Profiles 7 645 184 Bytes
LSD references 2010 30 720 Bytes
Biology 177 Question Exam 2010 38 400 Bytes

References:

    REVIEW ARTICLES

  1. Vellodi A, Lysosomal storage disorders, Br J Haematol 2005;128: 413-31
  2. Futerman AH, van Meer G, The cell biology of lysosomal storage disorders, Nat Rev Mol Cell Biol 2004; 5: 554-65


  3. TEXT BOOK

  4. Scriver CR et al, The online Metabolic and Molecular Basis of Inherited Disease Part 16: LYSOSOMAL DISORDERS (Chaps. 134 - 154)


  5. ONLINE RESOURCES

  6. The Mendelian Inheritance in Man web site is a catalogue of human genes and genetic disorders, and it includes information on LSDs .
  7. LSDs have also been specifically grouped together at the Inborn Errors in Metabolism web site .
  8. Human gene mutations are listed in the Human Gene Mutation Database, which collates information on published gene lesions that are responsible for human inherited disease .
  9. The European Study Group on Lysosomal Storage Diseases (ESGLD) maintains a web site .
  10. The Global Organization for Lysosomal Diseases is a non-profit international collaboration for individuals and carers affected by LSDs, and it has a web site that gives relevant information on LSDs and further useful links .


  11. INDIVIDUAL DISEASE WEBSITES

  12. Gaucher disease (http://www.gaucher.org.uk and http://www.childrensgaucher.org).
  13. Tay-Sachs disease .
  14. Mucopolysaccharidoses.
  15. Batten disease (http://www.bdsra.org and http://www.ucl.ac.uk/ncl).

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