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

• Niemann-Pick diseases
  16 October 2003

  Niemann-Pick disease, NPDs

• congenital bile adid synthesis defect type 1
  27 May 2009

  CBAS1, congenital bile adid synthesis disease type 1

• congenital bile adid synthesis defect type 2
  27 May 2009

  CBAS2

• progressive familial intrahepatic cholestasis type 3
  21 November 2011

  PFIC3, MDR3 deficiency

• GM1 gangliosidosis
  29 April 2016

  Images
  Suspected skeletal dysplasia with pulmonary hypoplasia @ 37gw. Small placenta (304g) : GM1 gangliosidosis https://twitter.com/sranna86/status/899780925445165056 Placental metabolic dysfunction due to GM1 gangliosidosis Placental shows vacuolisation of syncytiotrophoblast, intermediate trophoblast, and stromal Hofbauer cells. AR lysosomal storage disease characterised by def of acid beta-galactosidase resulting in accumulation of gangliosides and MPS in tissues.
  GM1 (...)

• PDSS2
  6 December 2007

  decaprenyl diphosphate synthase subunit 2 (PDSS2)

• 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

• cobalamin deficiency type C
  14 March 2011

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

• Greenberg syndrome
  30 September 2003

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

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