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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.

Galactosemia screening with low false-positive recall rate: the Swedish experience.

Ohlsson A, Guthenberg C, von Döbeln U.

JIMD Rep. 2012;2:113-7. doi: 10.1007/8904_2011_59. Epub 2011 Sep 6.

4.

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L.

Mol Genet Metab. 2011 Nov;104(3):289-94. doi: 10.1016/j.ymgme.2011.07.012. Epub 2011 Jul 20.

PMID:
21831683
5.

Profound biotinidase deficiency: a rare disease among native Swedes.

Ohlsson A, Guthenberg C, Holme E, von Döbeln U.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S175-80. doi: 10.1007/s10545-010-9065-y. Epub 2010 Mar 12.

PMID:
20224900

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