Disease

Articles

• methylmalonic acidurias
  31 July 2008

  methylmalonic acidemia, methylmalonic aciduria

• alpha-mannosidosis
  29 July 2008

  Alpha-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal alpha-mannosidase activity. The disorder shows a wide range of clinical phenotypes, from a severe infantile form (type I), which is fatal at less than 3 to 8 years of age, to a less severe juvenile- or adult-onset form (type II), which ultimately shows progressive neurologic degeneration. - Wide phenotypic variability. Alpha-mannosidosis is caused by mutation (...)

• neonatal diabetes mellitus
  29 July 2007

  Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000-400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults.
  The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy.
  In PNDM, (...)

• Hurler disease
  23 October 2009

  MPS1, mucopolysaccharidosis type I, mucopolysaccharidosis type 1

• mucopolysaccharidosis type 3A
  23 October 2009

  MPS3A (San Fillipo syndrome type A)(MIM.252900) ; mucopolysaccharidosis type 3A (San Fillipo syndrome type A)

• carnitine palmitoyltransferase deficiency type 2
  18 March 2005

  CPT2

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

• mucositis
  31 May 2004

  References
  Sonis ST. The pathobiology of mucositis. Nat Rev Cancer. 2004 Apr;4(4):277-84. PMID: #15057287#

• HHH syndrome
  25 September 2008

  hyperornithinemia, hyperammonemia, homocitrullinuria syndrome

• Kearns-Sayre syndrome
  31 October 2006

  ("ophthalmoplegia plus")
  Definition: Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and cardiac conduction defects.
  KKS is a sporadic disorder, associated with a large mtDNA deletion/rearrangement. The disorder may present with cerebellar ataxia in addition to the progressive external ophthalmoplegia, pigmentary retinopathy, and cardiac conduction defects. (...)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1050