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Items: 5

1.

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Barbaro M, Ohlsson A, Borte S, Jonsson S, Zetterström RH, King J, Winiarski J, von Döbeln U, Hammarström L.

J Clin Immunol. 2017 Jan;37(1):51-60. doi: 10.1007/s10875-016-0347-5. Epub 2016 Nov 21.

2.

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Ohlsson A, Bruhn H, Nordenström A, Zetterström RH, Wedell A, von Döbeln U.

JIMD Rep. 2016 Jul 28. [Epub ahead of print]

PMID:
27469133
3.

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A.

J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.

4.

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A.

BMC Genomics. 2014 Dec 11;15:1090. doi: 10.1186/1471-2164-15-1090.

5.

Decreased ethanol preference and wheel running in Nurr1-deficient mice.

Werme M, Hermanson E, Carmine A, Buervenich S, Zetterström RH, Thorén P, Ogren SO, Olson L, Perlmann T, Brené S.

Eur J Neurosci. 2003 Jun;17(11):2418-24.

PMID:
12814373

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