Disease

Articles

• mucolipidosis type IV
  12 November 2003

  Mucolipidosis type IV (ML-IV) is an autosomal recessive lysosomal storage disease that causes severe neurologic abnormalities.
  Synopsis
  brain : pigmented cytoplasmic granules in neurons and accumulation of lamellated membrane structures in lysosomes
  stomach: cytoplasmic vacuolization of parietal cells
  Ultrastructure
  lysosomal inclusions in gastric parietal cells
  Animals models
  Mouse: #17924347#
  Reviews
  Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol (...)

• homozygous familial hypercholesterolemia
  6 February 2004

  FH fetus
  multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus.
  Micoscopical synopsis
  ascending aorta
  foam-cell transformation of many medial smooth-muscle cells
  abnormal vascularization of the inner media and intima
  intimal involvement by a typical artherosclerotic (...)

• immunoglobulin heavy chain deposition disease
  12 December 2003
• monoclonal immunoglobulin deposition disease
  12 December 2003

  Classification
  immunoglobulin light chain deposition disease
  immunoglobulin heavy chain deposition disease

• X-linked thrombocytopenia
  7 March 2004

  XLT

• urea cycle diseases
  19 April 2004

  urea-cycle disorders, urea cycle disorder, disorders of the urea cycle, anomalies of urea cycle

• LADD syndrome
  28 March 2007

  Lacrimoauriculodentodigital syndrome (LADD), Levy-Hollister syndrome

• x-linked ectodermal dysplasia
  12 October 2007

  ectodermal dysplasia type 1, ED1

• TAR syndrome
  12 October 2007

  thrombocytopenia-absent-radius syndrome, thrombocytopenia-absent tetraphocomelia syndrome

• lethal congenital contracture syndromes
  15 October 2007

  LCCSs

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