Annika Ohlsson
Overview
Explore the profile of Annika Ohlsson including associated specialties, affiliations and a list of published articles.
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8
Citations
109
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0
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Recent Articles
1.
Sorensen L, von Dobeln U, Ahlman H, Ohlsson A, Engvall M, Naess K, et al.
Int J Neonatal Screen
. 2020 Oct;
6(2):42.
PMID: 33073033
Sweden has one neonatal screening laboratory, receiving 115 to 120 thousand samples per year. Among the one million babies screened by tandem mass spectrometry from November 2010 until July 2019,...
2.
Ohlsson A, Rehnholm K, Shubham K, von Dobeln U
Int J Neonatal Screen
. 2020 Oct;
5(4):38.
PMID: 33072997
Sweden has 10.2 million inhabitants and more than 2.4 million have a foreign background. A substantial number of immigrants come from countries where glucose-6-phosphate dehydrogenase deficiency (G6PDD) is frequent. The...
3.
Ohlsson A, Hunt M, Wedell A, von Dobeln U
J Inherit Metab Dis
. 2019 Jun;
42(5):1008-1018.
PMID: 31194895
The aim was to determine disease-causing variants in the GALT gene which codes for the enzyme galactose-1-phosphate uridylyltransferase. Loss of activity of this enzyme causes classical galactosemia-a life threatening, treatable...
4.
Barbaro M, Ohlsson A, Borte S, Jonsson S, Zetterstrom R, King J, et al.
J Clin Immunol
. 2016 Nov;
37(1):51-60.
PMID: 27873105
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period,...
5.
Ohlsson A, Bruhn H, Nordenstrom A, Zetterstrom R, Wedell A, von Dobeln U
JIMD Rep
. 2016 Jul;
34:19-26.
PMID: 27469133
Newborn screening (NBS) for phenylketonuria (PKU) which has a continuum of disease severities has been performed for more than 50 years. The screening method has undergone a continuous development with...
6.
Ohlsson A, Guthenberg C, von Dobeln U
JIMD Rep
. 2013 Feb;
2:113-7.
PMID: 23430863
Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder,...
7.
Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, et al.
Mol Genet Metab
. 2011 Aug;
104(3):289-94.
PMID: 21831683
Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-l-iduronidase, encoded by the IDUA gene. More than 100 disease causing mutations have been reported in the gene,...
8.
Ohlsson A, Guthenberg C, Holme E, von Dobeln U
J Inherit Metab Dis
. 2010 Mar;
33 Suppl 3:S175-80.
PMID: 20224900
Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was...