Genetic Metabolic Disorders Research Review Issue 4

In this issue:

HT1: plasma succinylacetone elevated post liver transplant
Pivalic acid fatalities in carnitine deficiency
Structural white matter changes evident in MSUD
Successful pregnancies in women with MSUD
Miglustat effective in Niemann-Pick disease type C
Gaucher disease:
  Velaglucerase alfa enzyme compared with imiglucerase
  Velaglucerase safety and efficacy
  Velaglucerase alfa enzyme replacement Phase 3 study
Skeletal manifestations in Niemann Pick disease type B
Successful epithelial cell transplant in murine model of MSUD

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