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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 ofa new, prevalent mutation that results in mild MCAD deficiency

Autor: Andresen, B.S., Dobrowolski, S.F., O'Reilly, L., Muenzer, J., McCandless, S.E., Frazier, M.F., Udvari, S., Bross, P., Knudsen, I., Banas, R., Chace, D.H., Engel, P., Naylor, E.W., Gregersen, N.

Publikováno v: Andresen, B S, Dobrowolski, S F, O'Reilly, L, Muenzer, J, McCandless, S E, Frazier, M F, Udvari, S, Bross, P, Knudsen, I, Banas, R, Chace, D H, Engel, P, Naylor, E W & Gregersen, N 2001, ' 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 ofa new, prevalent mutation that results in mild MCAD deficiency ' Am. J. Hum. Genet., vol. 68, no. 6, pp. 1408-1418 .

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https://pure.au.dk/portal/da/publications/mediumchain-acylcoa-dehydrogenase-mcad-mutations-identified-by-msmsbased-prospective-screening-of-newborns-differ-from-those-observed-in-patients-with-clinical-symptoms-identification-and-characterization-ofa-new-prevalent-mutation-that-results-in-mild-mcad-deficiency(73117250-f7b7-11da-bee9-02004c4f4f50).html

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Mutations of human medium-chain Acyl-CoA dehydrogenase

Autor: Udvari, S., Bross, P., Brage Storstein Andresen, Gregersen, N., Engel, P. C.

Publikováno v: Scopus-Elsevier
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::69123424db9d9f7b8e2a055e090b1be2
http://www.scopus.com/inward/record.url?eid=2-s2.0-0031884760&partnerID=MN8TOARS

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

Autor: Andresen, B. S., Dobrowolski, S. F., Reilly, L. O., Muenzer, J., Mccandless, S. E., Frazier, D. M., Udvari, S., Peter Bross, Knudsen, I., Banas, R., Chace, D. H., Engel, P., Gregersen, N.

Publikováno v: Aarhus University
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 & Gregersen, N 2001, ' 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., vol. 68, pp. 1408-1418 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8a58f1935d0de21cc482cad3364d14d3
https://pure.au.dk/portal/en/publications/mediumchain-acylcoa-dehydrogenase-mcad-mutations-identified-by-msmsbased-prospective-screening-of-newborns-differ-from-those-observed-in-patients-with-clinical-symptoms-identification-and-characteriz(44deb000-bda1-11da-bee9-02004c4f4f50).html