Pediatric diseases

Articles

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• 46,XY pure gonadal dysgenesis
  9 October 2010

  Digital cases
  Case 271 : 46,XY Pure gonadal dysgenesis. Streak gonad.
  Definition : The 46,XY pure gonadal dysgenesis is more common than the 46,XX pure gonadal dysgenesis.
  Etiology
  DHH germline mutations
  DHH-asssociated gonadal dysgenesis (MIM.233420)
  The syndrome of 46,XY pure gonadal dysgenesis may be sporadic or familial with either X-linked recessive or autosomal recessive patterns of inheritance.
  Some patients have a 45,X/46,XY mosaicism and are close to mixed gonadal (...)

• hepatic storage diseases
  15 June 2004

  Digital cases
  Case 247 : glycogen storage disease type 3 - GSD3
  Types
  mucopolysaccharidoses
  mannosidosis/fucosidosis
  sialidosis
  mucolipidosis
  GM1 general gangliosidosis
  cystinosis
  metachromatic leukodystrophy
  Farber disease
  glycogen storage diseases glycogen storage disease type 1 (GSD1) glycogen storage disease type 2 (GSD2) glycogen storage disease type 3 (GSD3) glycogen storage disease type 4 (GSD4)
  hepatic lysosomal storage diseases Wolman disease Gaucher (...)