Metabolic disease

Articles

• 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

• metachromatic leukodystrophies
  4 June 2006

  arysulfatase A deficiency, ARSA deficiency, cerebroside sulfatase deficiency, sulfatide lipidosis, MLD, metachromatic leukodystrophy, sulfatase deficiency

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• 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

• glycogen storage diseases
  28 January 2006

  glycogenosis, glycogenoses, GSDs

• Leigh syndrome
  28 May 2003

  Leigh’s syndrome

• mucolipidosis type IIIa
  17 February 2006

  classical pseudo-Hurler polydystrophy

• cystinosis
  15 April 2005

  Localization
  renal cystinosis
  medullary cystinosis
  hepatic cystinosis
  References
  Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21. PMID: #12110740#

• carnitine palmitoyltransferase deficiencies
  17 March 2005

  Types
  carnitine palmitoyltransferase deficiency type 1 (CPTD1) (MIM.255120)
  carnitine palmitoyltransferase deficiency type 2 (CPTD2) lethal neonatal CPTD2 (MIM.608836) infantile CPTD2 (MIM.600649) adult-onset CPTD2 (MIM.255100)
  References
  Sigauke E, Rakheja D, Kitson K, Bennett MJ. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. Lab Invest. 2003 Nov;83(11):1543-54. PMID: (...)

• VLCAD deficiency
  21 April 2005

  very long-chain acyl-CoA dehydrogenase deficiency

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