Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
about
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
P2860
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
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2015年論文
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2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@ast
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@en
type
label
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@ast
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@en
prefLabel
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@ast
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@en
P2093
P2860
P356
P1476
Medium-Chain Acyl-CoA Dehydrog ...... Detected by Newborn Screening
@en
P2093
Claus R Bartram
Georg F Hoffmann
Gisela Haege
Gwendolyn Gramer
Junmin Fang-Hoffmann
Katrin Hinderhofer
Martin Lindner
Peter Burgard
P2860
P304
P356
10.1007/8904_2015_439
P577
2015-05-05T00:00:00Z