Publications by authors named "Flemming Skovby"

48Publications

Can we clinically identify patients at risk of malignant transformation of skin tumors in Brooke-Spiegler syndrome?

Acta Dermatovenerol Alp Pannonica Adriat 2020 Sep;29(3):133-140

Department of Dermatology, Zealand University Hospital, Roskilde, Denmark.

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September 2020

The impact of consanguinity on the frequency of inborn errors of metabolism.

Mol Genet Metab Rep 2018 Jun 11;15:6-10. Epub 2018 Jan 11.

Centre for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2017.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772004PMC
June 2018

[The genome and cardiology].

Ugeskr Laeger 2014 Nov;176(46)

Rigshospitalets Enhed for Arvelige Hjerte-sygdomme, Hjertecentret, Rigshospitalet, Blegdamsvej 9, 2100 København Ø.

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November 2014

Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

Circulation 2013 Jan 28;127(1):48-54. Epub 2012 Nov 28.

Unit for Inherited Heart Diseases, Heart Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.111.090514DOI Listing
January 2013

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.

Eur J Hum Genet 2013 Jun 10;21(6):626-9. Epub 2012 Oct 10.

Memory Disorders Research Group, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

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http://www.nature.com/doifinder/10.1038/ejhg.2012.231
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http://dx.doi.org/10.1038/ejhg.2012.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658194PMC
June 2013

[Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands].

Ugeskr Laeger 2012 Apr;174(18):1217-9

Klinisk Genetisk Afdeling, Juliane Marie Centret, Rigshospitalet, Denmark.

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April 2012

MCAD deficiency in Denmark.

Mol Genet Metab 2012 Jun 4;106(2):175-88. Epub 2012 Apr 4.

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200119
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http://dx.doi.org/10.1016/j.ymgme.2012.03.018DOI Listing
June 2012

[Improved prognosis of cystinosis achieved by treatment with cysteamine and by kidney transplantation].

Ugeskr Laeger 2011 Aug;173(33):1958-62

Medicinsk Afdeling, Regionshospitalet Holstebro, Hospitalsenheden Vest, 7500 Holstebro, Denmark.

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August 2011

Cysteamine toxicity in patients with cystinosis.

J Pediatr 2011 Dec 23;159(6):1004-11. Epub 2011 Jul 23.

Department of Pediatric Nephrology, Laboratory of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.jpeds.2011.05.057DOI Listing
December 2011

[22q11 deletion syndrome].

Ugeskr Laeger 2010 Mar;172(13):1038-46

Børneafdelingen, Arhus Universitetshospital, Skejby, DK-8200 Arhus N, Denmark.

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March 2010

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.

J Inherit Metab Dis 2010 Oct 12;33(5):495-500. Epub 2010 Jan 12.

Department of Clinical Genetics, Juliane Marie Centre, Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s10545-009-9000-2DOI Listing
October 2010

[Severe vitamin B12 deficiency in infants breastfed by vegans].

Ugeskr Laeger 2009 Oct;171(43):3099-101

Rigshospitalet, Børneafdelingen, Klinisk Genetisk Afdeling, og Hvidovre Hospital, Børneafdelingen, Denmark.

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October 2009

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Mol Genet Metab 2010 Jan;99(1):1-3

Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2009.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795104PMC
January 2010

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Eur J Med Genet 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2007.03.004DOI Listing
September 2007

[Molecular diagnosis of CHARGE syndrom].

Ugeskr Laeger 2007 Jan;169(5):402-6

Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling.

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January 2007

[Optimising treatment for people with rare diseases].

Ugeskr Laeger 2006 Apr;168(15):1547-50

H:S Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling, København Ø.

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April 2006

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Prenat Diagn 2005 Jan;25(1):60-4

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1002/pd.983DOI Listing
January 2005

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy.

Pediatrics 2004 Oct;114(4):909-16

Lysosomal Diseases Research Unit, Department of Chemical Pathology, Women's and Children's Hospital, 72 King William Rd, North Adelaide, 5006, SA, Australia.

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http://dx.doi.org/10.1542/peds.2004-0583DOI Listing
October 2004

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Hum Mutat 2003 Jul;22(1):12-23

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://doi.wiley.com/10.1002/humu.10226
Publisher Site
http://dx.doi.org/10.1002/humu.10226DOI Listing
July 2003

[Treatment of inborn metabolic disorders].

Ugeskr Laeger 2002 Nov;164(48):5619-23

Klinisk genetisk afdeling 4062, H:S Rigshospitalet, Blegdamsvej 9, DK-2100 København ø.

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November 2002

[Diagnosis and acute treatment of inborn metabolic diseases in infants].

Ugeskr Laeger 2002 Nov;164(48):5613-9

Klinisk genetisk afdeling 4062, H:S Rigshospitalet, DK-2100 København ø.

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November 2002

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Mol Genet Metab 2002 Jul;76(3):201-6

Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC 1830, Building 10, Room 9S-241, Bethesda, MD 20892-1830, USA.

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http://dx.doi.org/10.1016/s1096-7192(02)00047-1DOI Listing
July 2002

[Children, fat and cardiovascular diseases].

Ugeskr Laeger 2002 Mar;164(10):1334-8

Arhus Universitetshospital, Skejby Sygehus, koronar-patologisk forskningsenhed og hjertemedicinsk afdeling B.

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March 2002