Metabolic disease

Articles

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• cobalamin deficiency type C
  14 March 2011

  cobalamin C disease; cobalamin deficiency type cblC with homocystinuria (MMACHC)

• 3-hydroxysteroid dehydrogenase deficiency
  25 May 2009

  3β-Hydroxysteroid dehydrogenase

• Zellweger disease
  17 March 2005

  Zellweger syndrome

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• adult polyglucosan body disease
  3 January 2006

  Adult polyglucosan body disease is a late-onset, slowly progressive, autosomal recessive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. THis disease is an allelic disorder to type IV glycogen storage disease with GBE1 mutations (...)

• multiple acyl-CoA dehydrogenation deficiency
  18 March 2005

  MADD, glutaric aciduria type 2

• cblC type of combined methylmalonic aciduria and homocystinuria
  2 February 2006

  cobalamine deficiency type C; cblC type cobalamine deficiency

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