Genetic Metabolic Disorders Research Review Issue 1

In this issue:

Serum biomarkers for Niemann-Pick Disease
Measuring pyridoxine derivatives in B6 seizure disorders
MSUD decompensation and Wernicke encephalopathy
Newborn screening identifies maternal MCADD
Glycogen storage disorders: fertility and pregnancy
Impact of antibodies in late-onset Pompe disease
Fabry disease: E66Q not a disease-causing mutation
MELAS syndrome: citrulline and arginine supplementation
Mucopolysaccharidosis I: high post-op mortality rate
Guidelines for the use of sapropterin in PKU

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