Flemming Wibrand

Flemming Wibrand

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Flemming Wibrand

Flemming Wibrand

Publications by authors named "Flemming Wibrand"

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Hum Mol Genet 2019 Oct 10. Epub 2019 Oct 10.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, 128 01 Prague, Czech Republic.

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http://dx.doi.org/10.1093/hmg/ddz237DOI Listing
October 2019

Hydroxylated long-chain acylcarnitines are biomarkers of mitochondrial myopathy.

J Clin Endocrinol Metab 2019 Jul 11. Epub 2019 Jul 11.

Copenhagen Neuromuscular Center, Department of Neurology.

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http://dx.doi.org/10.1210/jc.2019-00721DOI Listing
July 2019

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

JIMD Rep 2019 Mar 14;46(1):35-45. Epub 2019 Mar 14.

Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.

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http://dx.doi.org/10.1002/jmd2.12007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498822PMC
March 2019

Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes.

Am J Physiol Gastrointest Liver Physiol 2018 01 28;314(1):G91-G96. Epub 2017 Sep 28.

Center for Diabetes Research, Gentofte Hospital, University of Copenhagen, Hellerup, Denmark.

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http://dx.doi.org/10.1152/ajpgi.00216.2017DOI Listing
January 2018

Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1.

J Chromatogr B Analyt Technol Biomed Life Sci 2018 Jan 26;1072:259-266. Epub 2017 Nov 26.

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

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http://dx.doi.org/10.1016/j.jchromb.2017.11.031DOI Listing
January 2018

Leber hereditary optic neuropathy due to a new ND1 mutation.

Ophthalmic Genet 2017 Sep-Oct;38(5):480-485. Epub 2017 Jan 31.

a Faculty of Health and Medical Sciences , University of Copenhagen , Copenhagen , Denmark.

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http://dx.doi.org/10.1080/13816810.2016.1253108DOI Listing
December 2017

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

Scand J Clin Lab Invest 2017 Dec 16;77(8):617-621. Epub 2017 Oct 16.

g Medical Endocrinology , Rigshospitalet, Copenhagen University , Denmark.

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http://dx.doi.org/10.1080/00365513.2017.1390782DOI Listing
December 2017

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.

Clin Case Rep 2017 12 2;5(12):2034-2039. Epub 2017 Nov 2.

Copenhagen Neuromuscular Clinic Rigshospitalet University of Copenhagen Copenhagen Denmark.

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http://dx.doi.org/10.1002/ccr3.1096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715413PMC
December 2017

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.

Cerebellum 2017 02;16(1):62-67

Danish Dementia Research Centre, Neurogenetics Clinic, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s12311-016-0765-1DOI Listing
February 2017

Hearing impairment and renal failure associated with RMND1 mutations.

Am J Med Genet A 2016 Jan 23;170A(1):142-7. Epub 2015 Sep 23.

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

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http://dx.doi.org/10.1002/ajmg.a.37399DOI Listing
January 2016

Taurine and regulation of mitochondrial metabolism.

Adv Exp Med Biol 2015 ;803:397-405

Department of Clinical Biochemistry, 3-01-1, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark,

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http://dx.doi.org/10.1007/978-3-319-15126-7_30DOI Listing
August 2015

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

Orphanet J Rare Dis 2015 Jun 6;10:70. Epub 2015 Jun 6.

Department of Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital Rigshospitalet, 9 Blegdamsvej, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1186/s13023-015-0286-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4465300PMC
June 2015

Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation.

JIMD Rep 2016 25;25:65-70. Epub 2015 Jun 25.

Department of Neurology, Copenhagen Neuromuscular Center, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5059218PMC
http://dx.doi.org/10.1007/8904_2015_459DOI Listing
June 2015

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Mol Genet Metab Rep 2015 Jun 20;3:5-10. Epub 2015 Feb 20.

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

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http://dx.doi.org/10.1016/j.ymgmr.2015.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750589PMC
June 2015

Mild Lesch-Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype-Phenotype Correlation.

JIMD Rep 2015 4;18:135-7. Epub 2014 Nov 4.

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

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http://dx.doi.org/10.1007/8904_2014_368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361920PMC
March 2015

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature.

J Med Genet 2015 Mar 20;52(3):203-7. Epub 2015 Jan 20.

Department of Neurology and Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2014-102914
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http://dx.doi.org/10.1136/jmedgenet-2014-102914DOI Listing
March 2015

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.

Eur J Paediatr Neurol 2015 Jan 1;19(1):69-71. Epub 2014 Nov 1.

Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Denmark.

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http://dx.doi.org/10.1016/j.ejpn.2014.10.006DOI Listing
January 2015

Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.

Mol Genet Metab Rep 2014 22;1:241-248. Epub 2014 May 22.

Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2014.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121291PMC
May 2014

A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>a associated with pure myopathy.

Neuromuscul Disord 2014 Feb 20;24(2):162-6. Epub 2013 Aug 20.

Neuromuscular Research Unit, Section 3342, Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Department of Neurology, Aarhus Hospital, University of Aarhus, Denmark.

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http://dx.doi.org/10.1016/j.nmd.2013.08.004DOI Listing
February 2014

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

JIMD Rep 2014 31;12:37-45. Epub 2013 Aug 31.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2013_242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897792PMC
January 2014

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy.

J Child Neurol 2013 Nov 10;28(11):1505-1508. Epub 2012 Sep 10.

1Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey.

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http://dx.doi.org/10.1177/0883073812458710DOI Listing
November 2013

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Gene 2013 Feb 20;515(2):372-5. Epub 2012 Dec 20.

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

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http://dx.doi.org/10.1016/j.gene.2012.12.066DOI Listing
February 2013

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

Biomarkers of mitochondrial content in skeletal muscle of healthy young human subjects.

J Physiol 2012 Jul 14;590(14):3349-60. Epub 2012 May 14.

Center for Healthy Aging-Department of Biomedical Sciences, Copenhagen University, Blegdamsvej 3b, DK-2200 Copenhagen, Denmark.

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http://dx.doi.org/10.1113/jphysiol.2012.230185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459047PMC
July 2012

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.

J Med Genet 2011 Nov 26;48(11):737-40. Epub 2011 May 26.

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

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http://dx.doi.org/10.1136/jmg.2011.088856DOI Listing
November 2011

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.

Mol Genet Metab 2011 Nov 14;104(3):314-8. Epub 2011 May 14.

Department of Medical Endocrinology, National University Hospital, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.008DOI Listing
November 2011

Clinical presentation and mutations in Danish patients with Wilson disease.

Eur J Hum Genet 2011 Sep 25;19(9):935-41. Epub 2011 May 25.

Kennedy Center, Department of Human Molecular Genetics, Gl. Landevej 7,Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2011.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179371PMC
September 2011

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

J Inherit Metab Dis 2010 Jun 5;33(3):211-22. Epub 2010 May 5.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej 100, Aarhus N, Denmark.

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http://dx.doi.org/10.1007/s10545-010-9086-6DOI Listing
June 2010

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations.

Muscle Nerve 2010 May;41(5):607-13

Department of Clinical Genetics 4061, Rigshospitalet, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1002/mus.21541DOI Listing
May 2010

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

The important role of taurine in oxidative metabolism.

Adv Exp Med Biol 2006 ;583:129-35

Department of Clinical Biochemistry 3-01-3, Rigshospitalet, Copenhagen University Hospital, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1007/978-0-387-33504-9_13DOI 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

31P-MRS of skeletal muscle is not a sensitive diagnostic test for mitochondrial myopathy.

J Neurol 2007 Jan 4;254(1):29-37. Epub 2007 Feb 4.

Neuromuscular Research Unit, Section 7611, National University Hospital, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

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http://dx.doi.org/10.1007/s00415-006-0229-5DOI Listing
January 2007

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.

Brain 2006 Dec 30;129(Pt 12):3402-12. Epub 2006 Jun 30.

Department of Neurology, Neuromuscular Research Unit, The Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1093/brain/awl149DOI Listing
December 2006

Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.

Arch Neurol 2006 Dec;63(12):1701-6

Copenhagen Muscle Research Center, Department of Neurology and Neuromuscular Research Unit, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1001/archneur.63.12.1701DOI Listing
December 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

Acidosis during reoxygenation has an early detrimental effect on neuronal metabolic activity.

Pediatr Res 2005 Apr 4;57(4):488-93. Epub 2005 Feb 4.

Department of Pediatric Research, Rikshospitalet University Clinic, Oslo, Norway.

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http://dx.doi.org/10.1203/01.PDR.0000155946.82230.2EDOI Listing
April 2005

A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum.

Authors:
Flemming Wibrand

Clin Chim Acta 2004 Sep;347(1-2):89-96

John F. Kennedy Institute, Gl. Landevej 7, 2600 Glostrup, Denmark.

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http://linkinghub.elsevier.com/retrieve/pii/S000989810400213
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http://dx.doi.org/10.1016/j.cccn.2004.04.012DOI Listing
September 2004

Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA.

J Neurol Sci 2003 Oct;214(1-2):17-20

The Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/s0022-510x(03)00168-0DOI Listing
October 2003

[Mitochondrial diseases. Clinical features, investigation and genetics].

Ugeskr Laeger 2003 Feb;165(7):663-8

John F. Kennedy Instituttet, Gl. Landevej 7, DK-2600 Glostrup.

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February 2003