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Volumn 108, Issue 1, 2013, Pages 51-55

Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency

Author keywords

Dried blood spots; Fatty acid oxidation disorders; Medium chain acyl CoA dehydrogenase deficiency; Newborn screening

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 84871722800     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.016     Document Type: Article
Times cited : (21)

References (11)
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  • 5
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    • Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity
    • Nagao M., Raymond D., Kim J., Tanaka K. Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity. Clin. Chim. Acta 1993, 220:165-174.
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    • Nagao, M.1    Raymond, D.2    Kim, J.3    Tanaka, K.4
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    • Predicting deleterious amino acid substitutions
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    • Ng, P.C.1    Henikoff, S.2
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    • 0034985656 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
    • Andresen B.S., Dobrowolski S.F., O'Reilly L., Muenzer J., McCandless S.E., Frazier D.M., Udvari S., Bross P., Knudsen I., Banas R., Chace D.H., Engel P., Naylor E.W., Gregersen N. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am. J. Hum. Genet. 2001, 68:1408-1418.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1408-1418
    • Andresen, B.S.1    Dobrowolski, S.F.2    O'Reilly, L.3    Muenzer, J.4    McCandless, S.E.5    Frazier, D.M.6    Udvari, S.7    Bross, P.8    Knudsen, I.9    Banas, R.10    Chace, D.H.11    Engel, P.12    Naylor, E.W.13    Gregersen, N.14
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    • Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
    • Chace D.H., DiPerna J.C., Mitchell B.L., Sgroi B., Hofman L.F., Naylor E.W. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin. Chem. 2001, 47:1166-1182.
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    • Chace, D.H.1    DiPerna, J.C.2    Mitchell, B.L.3    Sgroi, B.4    Hofman, L.F.5    Naylor, E.W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.