Metabolic disease

Articles

• Wilson disease
  30 May 2003

  Wilson’s disease

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• MELAS
  21 November 2003

  Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like symptoms, MELAS syndrome

• 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

• Greenberg syndrome
  30 September 2003

  Hydrops-ectopic calcification-"moth-eaten" (HEM), Greenberg skeletal dysplasia, hydrops-ectopic calcification-moth-eaten skeletal dysplasia

• glycogen storage disease type 3
  9 February 2006

  glycogenosis type 3, glycogen storage disease type III, Forbes disease, limit dextrinosis, GSD type 3, Cori disease, Cori’s disease

• cobalamin deficiency type C
  14 March 2011

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

• 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

• glycogen storage disease type 9a
  7 May 2010

  GSD9q

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