Publications by authors named "Ernst Christensen"

42Publications

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Mol Genet Metab 2017 06 20;121(2):80-82. Epub 2017 Apr 20.

Bioanalytics & Biochemistry, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359 Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.009DOI Listing
June 2017

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

JIMD Rep 2013 31;9:1-5. Epub 2012 Aug 31.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/8904_2012_173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565670PMC
February 2013

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

J Inherit Metab Dis 2013 Nov 19;36(6):983-7. Epub 2013 Feb 19.

Structural Genomics Consortium, University of Oxford, Oxford, OX3 7DQ, UK.

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http://dx.doi.org/10.1007/s10545-013-9589-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825524PMC
November 2013

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

[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

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

J Inherit Metab Dis 2012 Sep 10;35(5):787-96. Epub 2012 Jan 10.

Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute of Clinical Medicine, Aarhus, Denmark.

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http://dx.doi.org/10.1007/s10545-011-9437-yDOI Listing
September 2012

The molecular basis of aminoacylase 1 deficiency.

Biochim Biophys Acta 2011 Jun 23;1812(6):685-90. Epub 2011 Mar 23.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2011.03.005DOI Listing
June 2011

[Fish odour--could be a sign of trimethylaminuria].

Ugeskr Laeger 2010 Nov;172(47):3268-9

Klinisk-Genetisk Afdeling, Klinik for Sjaldne Handicap, Rigshospitalet, Denmark.

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November 2010

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).

Hum Mutat 2010 Dec 9;31(12):1280-5. Epub 2010 Nov 9.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Germany.

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http://dx.doi.org/10.1002/humu.21375DOI Listing
December 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

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Eur J Pediatr 2010 Jun 24;169(6):727-32. Epub 2009 Nov 24.

Department of Pediatrics, Bikur Cholim General Hospital, Jerusalem, Israel.

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http://dx.doi.org/10.1007/s00431-009-1102-1DOI Listing
June 2010

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Eur J Pediatr 2010 Feb 14;169(2):201-5. Epub 2009 Jun 14.

Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00431-009-1007-zDOI Listing
February 2010

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Hum Mol Genet 2008 Dec 5;17(24):3854-63. Epub 2008 Sep 5.

Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.

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http://dx.doi.org/10.1093/hmg/ddn284DOI Listing
December 2008

[Congenital methaemoglobinaemia: an infrequent cause of neonatal cyanosis].

Ugeskr Laeger 2008 Aug;170(33):2460

H:S Rigshospitalet, Juliane Marie Centret, Neonatalklinikken.

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August 2008

[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)].

Ugeskr Laeger 2008 Feb;170(8):655

Dermato-venerologisk Afdeling I, Odense Universitetshospital, DK-5000 Odense C.

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February 2008

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Am J Hum Genet 2007 Aug 4;81(2):383-7. Epub 2007 Jun 4.

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

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http://dx.doi.org/10.1086/519222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950792PMC
August 2007

Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis.

Arch Neurol 2007 Mar;64(3):435-8

Department of Pediatrics, Meram Medical Faculty, Selcuk University, Konya, Turkey.

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http://dx.doi.org/10.1001/archneur.64.3.435DOI Listing
March 2007

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Brain 2007 Mar 7;130(Pt 3):853-61. Epub 2007 Feb 7.

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

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http://dx.doi.org/10.1093/brain/awl383DOI Listing
March 2007

[Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia].

Ugeskr Laeger 2006 Nov;168(46):4014-5

Amtssygehuset i Glostrup, Paediatrisk Afdeling.

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November 2006

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Hum Genet 2006 Feb 30;118(6):680-90. Epub 2005 Nov 30.

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

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http://dx.doi.org/10.1007/s00439-005-0070-4DOI Listing
February 2006

Hypertrichosis in patients with SURF1 mutations.

Am J Med Genet A 2005 Nov;138(4):384-8

John F. Kennedy Institute, Glostrup, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.30972DOI Listing
November 2005

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Mol Genet Metab 2005 Jun 1;85(2):115-20. Epub 2005 Apr 1.

Department of Human Genetics, McGill University, Montreal, Que., Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500081
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http://dx.doi.org/10.1016/j.ymgme.2005.03.001DOI Listing
June 2005

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

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

Ann Neurol 2005 Jan;57(1):60-6

Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ana.20320
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http://dx.doi.org/10.1002/ana.20320DOI 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

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

Eur J Paediatr Neurol 2004 ;8(3):121-9

Department of Neuropediatrics, The Queen Silvia Children's Hospital, University of Göteborg, S-416 85, Göteborg, Sweden.

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http://dx.doi.org/10.1016/j.ejpn.2003.12.007DOI Listing
September 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
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http://dx.doi.org/10.1002/humu.10226DOI Listing
July 2003

[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