Publications by authors named "Allan M Lund"

56Publications

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate.

Int J Neonatal Screen 2019 Jun 4;5(2):19. Epub 2019 May 4.

Danish Center for Newborn Screening, Statens Serum Institut, 2300 Copenhagen, Denmark.

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http://dx.doi.org/10.3390/ijns5020019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7510209PMC
June 2019

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.

Orphanet J Rare Dis 2020 Sep 29;15(1):271. Epub 2020 Sep 29.

International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1186/s13023-020-01549-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525940PMC
September 2020

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

JIMD Rep 2020 May 31;53(1):16-21. Epub 2020 Mar 31.

Department of Neurology, Copenhagen Neuromuscular Center, Rigshospitalet Copenhagen University Hospital Copenhagen Denmark.

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http://dx.doi.org/10.1002/jmd2.12113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203654PMC
May 2020

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.

Mol Genet Metab Rep 2020 Jun 8;23:100586. Epub 2020 Apr 8.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149402PMC
June 2020

Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.

Pediatr Pulmonol 2020 02 4;55(2):549-555. Epub 2019 Nov 4.

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

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http://dx.doi.org/10.1002/ppul.24564DOI Listing
February 2020

Increased risk of sudden death in untreated primary carnitine deficiency.

J Inherit Metab Dis 2020 03 15;43(2):290-296. Epub 2019 Dec 15.

Department of Cardiology, Bispebjerg University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/jimd.12158DOI Listing
March 2020

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

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

Mol Genet Metab 2019 04 25;126(4):397-405. Epub 2019 Feb 25.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.003DOI Listing
April 2019

A splice-site variant in the lncRNA gene cosegregates in the large Volkmann cataract family.

Mol Vis 2019 20;25:1-11. Epub 2019 Jan 20.

Copenhagen Center for Glycomics, Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, Copenhagen N, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377377PMC
June 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.

J Inherit Metab Dis 2019 11 27;42(6):1162-1175. Epub 2019 Feb 27.

Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12066DOI Listing
November 2019

Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study.

Nephrol Dial Transplant 2019 09;34(9):1525-1533

Department of Medical Endocrinology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1093/ndt/gfy357DOI Listing
September 2019

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia.

Pediatr Res 2018 08 31;84(2):228-232. Epub 2018 May 31.

Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.

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http://dx.doi.org/10.1038/s41390-018-0066-0DOI Listing
August 2018

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

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

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

Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?

JIMD Rep 2017 20;36:35-40. Epub 2017 Jan 20.

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

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http://dx.doi.org/10.1007/8904_2016_30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680280PMC
January 2017

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue.

Int J Gynecol Pathol 2016 Jan;35(1):38-40

Departments of Pathology (L.B.-A., A.B.G.) Clinical Genetics (L.A., A.M.L.), Copenhagen University Hospital, Copenhagen, Denmark.

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http://dx.doi.org/10.1097/PGP.0000000000000214DOI Listing
January 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

JIMD Rep 2015 13;23:67-70. Epub 2015 Mar 13.

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

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http://dx.doi.org/10.1007/8904_2015_428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484903PMC
June 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

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Am J Med Genet A 2014 May 19;164A(5):1143-50. Epub 2014 Mar 19.

Instituto de Investigaciones Biomédicas, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36427DOI Listing
May 2014

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

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Am J Med Genet A 2014 Feb 5;164A(2):386-91. Epub 2013 Dec 5.

Ehlers-Danlos Syndrome National Diagnostic Service, North West London Hospitals NHS Trust, Harrow, Middlesex, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36285DOI 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

Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.

J Inherit Metab Dis 2014 Mar 21;37(2):223-30. Epub 2013 Aug 21.

Department of Internal Medicine, National Hospital, FO-100, Thorshavn, the Faroe Islands,

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http://link.springer.com/content/pdf/10.1007/s10545-013-9640
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http://link.springer.com/10.1007/s10545-013-9640-0
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http://dx.doi.org/10.1007/s10545-013-9640-0DOI Listing
March 2014

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.

J Inherit Metab Dis 2014 Mar 8;37(2):215-22. Epub 2013 May 8.

Department of Internal Medicine, National Hospital, FO-100, Thorshavn, Faroe Islands,

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http://dx.doi.org/10.1007/s10545-013-9606-2DOI Listing
March 2014

Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.

JIMD Rep 2013 24;11:49-52. Epub 2013 Apr 24.

, 9, Blegdamsvej, Section X3023, DK-2100, Copenhagen Ø, Denmark,

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http://dx.doi.org/10.1007/8904_2013_221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755547PMC
August 2013

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

Mol Genet Metab 2012 Dec 28;107(4):705-10. Epub 2012 Sep 28.

Department of Pediatrics and Amsterdam Lysosome Centre Sphinx, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120036
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http://dx.doi.org/10.1016/j.ymgme.2012.09.024DOI Listing
December 2012

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.

J Inherit Metab Dis 2013 Jan 8;36(1):35-41. Epub 2012 May 8.

Department of Internal Medicine, National Hospital, FO-100, Thorshavn, the Faroe Islands.

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http://dx.doi.org/10.1007/s10545-012-9488-8DOI Listing
January 2013

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

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence.

Acta Paediatr 2008 Nov 4;97(11):1577-81. Epub 2008 Aug 4.

Division of Paediatrics, Department of Clinical Science, Intervention and Technology, Karolinska Institute, Karolinska University Hospital, Huddinge, Sweden.

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http://doi.wiley.com/10.1111/j.1651-2227.2008.00965.x
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http://dx.doi.org/10.1111/j.1651-2227.2008.00965.xDOI Listing
November 2008