Group of diseases

Articles

• lysosomal storage diseases
  21 November 2003

  lysosomal storage disorders

• neurodegenerative diseases
  16 July 2003

  neurodegenerative disorders, degenerative brain diseases

• congenital soft tissue dysplasias
  12 November 2003

  hamartomatous dysplasias

• digestive polyposis syndromes
  20 November 2003

  digestive polyposes, digestive polyposis

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• inherited bone marrow failure
  19 November 2003

  congenital bone marrow failure syndromes, IBMF

• mitochondrial protein synthesis disorders
  20 November 2003

  References
  Jacobs HT. Disorders of mitochondrial protein synthesis. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R293-301. Epub 2003 Aug 19. PMID: #12928485#
  Jacobs HT, Holt IJ. The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don’t. Hum Mol Genet. 2000 Mar 1;9(4):463-5. PMID: #10699169#

• renohepatopancreatic dysplasia
  29 June 2005

  RHPD, renal hepatic pancreatic dysease, renohepatopancreatic dysplasia, hepatorenopancreatic dysplasia, renohepatopancreatic dysplastic syndromes

• mucopolysaccharidoses
  28 January 2006

  Definition: The mucopolysaccharidoses (MPS) are a group of closely related syndromes that result from genetically determined deficiencies of lysosomal enzymes involved in the degradation of mucopolysaccharides (glycosaminoglycans).
  They are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ (...)

• MODYs
  15 April 2005

  maturity-onset diabetes of the young

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