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… (More)
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Phyre2 is a suite of tools available on the web to predict and analyze protein structure, function and mutations. The focus of… (More)
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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… (More)
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Review
2009
Review
2009
Recent years have witnessed the discovery that amino acids (AA) are not only cell signaling molecules but are also regulators of… (More)
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Highly Cited
2009
Highly Cited
2009
Metabolomic profiling of obese versus lean humans reveals a branched-chain amino acid (BCAA)-related metabolite signature that is… (More)
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Highly Cited
2007
Highly Cited
2007
Tumor cell proliferation requires rapid synthesis of macromolecules including lipids, proteins, and nucleotides. Many tumor cells… (More)
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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… (More)
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Review
1999
Review
1999
Homocysteine is a sulfur amino acid whose metabolism stands at the intersection of two pathways: remethylation to methionine… (More)
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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… (More)
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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… (More)
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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… (More)
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