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Matthew Nichols

New York State Department of Health

6

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148

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Analysis of age-related changes in psychosine metabolism in the human brain

2018 PLOS ONE
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Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease

2016 Journal of Neuroscience Research
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Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots

2013 Clinical Chemistry
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Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

2010 Molecular Genetics and Metabolism
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Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.

2008 American Journal of Medical Genetics Part A
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