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Items: 1 to 20 of 46

1.

Costs associated with treatment of severe combined immunodeficiency-rationale for newborn screening in Sweden.

Gardulf A, Winiarski J, Thorin M, Heibert Arnlind M, von Döbeln U, Hammarström L.

J Allergy Clin Immunol. 2017 May;139(5):1713-1716.e6. doi: 10.1016/j.jaci.2016.10.043. Epub 2016 Dec 21. No abstract available.

PMID:
28012934
2.

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.

3.

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
4.

[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].

Oscarson M, Vassiliou D, Nordenström A, Nergårdh R, Wedell A, von Döbeln U.

Lakartidningen. 2016 Feb 1;113. pii: DSHI. Swedish.

PMID:
26835685
5.

The ketogenic diet compensates for AGC1 deficiency and improves myelination.

Dahlin M, Martin DA, Hedlund Z, Jonsson M, von Döbeln U, Wedell A.

Epilepsia. 2015 Nov;56(11):e176-81. doi: 10.1111/epi.13193. Epub 2015 Sep 24.

6.

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.

7.

Heat differentiated complement factor profiling.

Hamsten C, Skattum L, Truedsson L, von Döbeln U, Uhlén M, Schwenk JM, Hammarström L, Nilsson P, Neiman M.

J Proteomics. 2015 Aug 3;126:155-62. doi: 10.1016/j.jprot.2015.05.027. Epub 2015 Jun 3.

PMID:
26047714
8.

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.

9.

Epidemiology of lysosomal storage diseases in Sweden.

Hult M, Darin N, von Döbeln U, Månsson JE.

Acta Paediatr. 2014 Dec;103(12):1258-63. doi: 10.1111/apa.12807. Epub 2014 Oct 15.

PMID:
25274184
10.

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.

Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L.

Clin Immunol. 2014 Nov;155(1):74-8. doi: 10.1016/j.clim.2014.09.003. Epub 2014 Sep 15.

PMID:
25217881
11.

Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.

Stenlid MH, Ahlsson F, Forslund A, von Döbeln U, Gustafsson J.

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1059-64. doi: 10.1515/jpem-2013-0423.

PMID:
24914713
12.

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT.

J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29. No abstract available.

PMID:
24882743
13.

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

Gidlöf S, Wedell A, Guthenberg C, von Döbeln U, Nordenström A.

JAMA Pediatr. 2014 Jun;168(6):567-74. doi: 10.1001/jamapediatrics.2013.5321.

PMID:
24733564
14.

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, Nordenström A.

Lancet Diabetes Endocrinol. 2013 Sep;1(1):35-42. doi: 10.1016/S2213-8587(13)70007-X. Epub 2013 Feb 26. Erratum in: Lancet Diabetes Endocrinol. 2013 Aug;1 Suppl 1:s22.

PMID:
24622265
15.

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Lingman Framme J, Borte S, von Döbeln U, Hammarström L, Oskarsdóttir S.

J Clin Immunol. 2014 May;34(4):514-9. doi: 10.1007/s10875-014-0002-y. Epub 2014 Mar 9.

PMID:
24610337
16.

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases.

Verstegen RH, Borte S, Bok LA, van Zwieten PH, von Döbeln U, Hammarström L, de Vries E.

J Allergy Clin Immunol. 2014 Apr;133(4):1208-11. doi: 10.1016/j.jaci.2013.10.010. Epub 2013 Dec 9. No abstract available.

PMID:
24332217
17.

Visual automated fluorescence electrophoresis provides simultaneous quality, quantity, and molecular weight spectra for genomic DNA from archived neonatal blood spots.

Klassen TL, Drabek J, Tomson T, Sveinsson O, von Döbeln U, Noebels JL, Goldman AM.

J Mol Diagn. 2013 May;15(3):283-90. doi: 10.1016/j.jmoldx.2013.01.003. Epub 2013 Mar 19.

18.

Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation.

Zhou X, Kannisto K, Curbo S, von Döbeln U, Hultenby K, Isetun S, Gåfvels M, Karlsson A.

PLoS One. 2013;8(3):e58843. doi: 10.1371/journal.pone.0058843. Epub 2013 Mar 7.

19.

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N.

JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20.

20.

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.

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