Genetic Metabolic Disorders Research Review Issue 2

In this issue:

Late-onset Pompe disease: autopsy findings
Plasma glycoprotein glycosylation in galactosaemia
S-adenosylhomocysteine hydrolase deficiency
Pompe disease: genes and enzyme replacement response
Expanded newborn screening for glutaric acidaemia type 1
Obesity in phenylketonuria
Rapid cessation of enzyme replacement therapy
Phospholipid, sphingolipid and fatty acid biosynthesis disorders
Novel approach to treatment of metabolic brain disorders
Ethical debate on newborn MPS I screening

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