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Amino Acid Metabolism, Inborn Errors

Known as: Congenital Amino Acidopathy, inborn aminoacid metabolism disorder, AMINOACIDOPATHY 
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic… 
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
As next-generation sequencing projects generate massive genome-wide sequence variation data, bioinformatics tools are being… 
Highly Cited
2011
Highly Cited
2011
Emerging technologies allow the high-throughput profiling of metabolic status from a blood specimen (metabolomics). We… 
Highly Cited
2004
Highly Cited
2004
Familial parkinsonism and dementia with cortical and subcortical Lewy bodies is uncommon, and no genetic defect has been reported… 
Highly Cited
2002
Highly Cited
2002
The cycloaddition of azides to alkynes is one of the most important synthetic routes to 1H-[1,2,3]-triazoles. Here a novel… 
Review
1994
Review
1994
In many neurologic disorders, injury to neurons may be caused at least in part by overstimulation of receptors for excitatory… 
Highly Cited
1992
Highly Cited
1992
AS methods for determining protein three-dimensional (3D) structure develop, a continuing problem is how to verify that the final… 
Highly Cited
1991
Highly Cited
1991
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21 (ref. 1), close to the amyloid… 
Highly Cited
1991
Highly Cited
1991
PROTEINS often differ in amino-acid sequence across species. This difference has evolved by the accumulation of neutral mutations…