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List of works by Allan M Lund

(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

scientific article published on 01 January 1997

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

scientific article published on 31 August 2013

A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype

scientific article published on 17 November 2007

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

article

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

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

scientific article published on 13 March 2015

Adherence issues in inherited metabolic disorders treated by low natural protein diets.

scientific article published on 03 December 2012

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

scientific article

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

scientific article published on 10 December 2018

Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

scientific journal article

Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

scientific article published on 23 July 2015

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

scientific article published on 6 June 2015

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient.

scientific article published on 20 October 2011

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

scientific article

Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients

scientific article published in December 2011

Anthropometry of patients with osteogenesis imperfecta

scientific article

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

scientific article published on 01 July 1995

Atraumatic loss of a kidney in a patient with alpha1-antitrypsin deficiency

scientific article published on 01 September 1998

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity

scientific article published on 01 February 1992

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

scientific article published on 21 June 2012

Bone mineral content and collagen defects in osteogenesis imperfecta

scientific article

Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophy.

scientific article

Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study

scientific article published on 26 September 2019

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

scientific article published on 8 May 2013

Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation

scientific article

Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

scientific article

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

scientific article published in April 2012

Case 2: Suspected non-accidental injury

scientific article published on 01 October 2006

Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

scientific article published in March 2003

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

scientific article

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

scientific article published on 21 November 2008

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

scientific article published on 12 January 2010

Co-existence of osteogenesis imperfecta and hyperparathyroidism

scientific article published in July 1999

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.

scientific article

Collagen-derived markers of bone metabolism in osteogenesis imperfecta

scientific article published on 01 November 1998

Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels.

scientific article

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.

scientific article

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

scientific article published on 3 May 2018

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

scientific article

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

scientific article

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

scientific article published on 12 December 2017

Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

scientific article published on 26 May 2018

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

scientific article published on 04 November 2019

Danish expanded newborn screening is a successful preventive public health programme

scientific article published on 01 January 2020

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

scientific article published on 25 February 2019

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.

scientific article published on 25 February 2016

Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV

scientific article published on 01 March 1996

Dental manifestations of osteogenesis imperfecta and abnormalities of collagen I metabolism

scientific article published on 01 January 1998

Early access experience with VPRIV(®): recommendations for 'core data' collection.

scientific article published on 13 December 2010

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

scientific article published on 01 August 2018

Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

scientific article published on 30 May 2018

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

scientific article

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

scientific article published on 18 April 2018

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 01 November 2015

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

scientific article published on 01 November 2015

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

scientific article published on 27 February 2019

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

scientific article published on 31 May 2018

Fabry disease in children: agalsidase-beta enzyme replacement therapy

scientific article published on 27 September 2012

False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency

scientific article published on 01 September 2000

Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

scientific article

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.

scientific article

Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

scientific article published on 08 April 2019

Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism

scientific article published on 01 November 1996

Genotype and phenotype classification of 29 patients affected by Krabbe disease

scientific article published on 14 March 2019

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism

scientific article published on 01 January 1996

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

scientific article

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

scientific article published on 28 September 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.

scientific article

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

scientific article published in September 2009

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

scientific article published on 28 September 2017

Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.

scientific article

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

scientific article published on 21 December 2015

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

scientific article published on 01 September 2019

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

scientific article published on 04 May 2019

Increased risk of sudden death in untreated primary carnitine deficiency

scientific article published on 15 December 2019

Initial report from the Hunter Outcome Survey

scientific article published in July 2008

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

scientific article published on 23 October 2018

Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

scientific article published on 3 March 2015

MCAD deficiency in Denmark.

scientific article published on 4 April 2012

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

scientific article published on 4 November 2014

Molecular biological aspects of Marfan syndromes

scientific article published in January 2011

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.

scientific article published on December 2006

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

scientific article

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

scientific article published on 4 August 2008

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

scientific article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

scientific article published on 7 November 2011

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

scientific article published on 12 July 2012

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

scientific article published on 5 November 2015

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

scientific article (publication date: June 2006)

Newborn screening for homocystinurias: recent recommendations versus current practice

scientific article published on 01 January 2019

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

scientific article published on 22 September 2011

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

scientific article published on 18 September 2013

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

Oesteogenesis imperfecta--genetics, diagnosis and medical treatment

scientific article published in January 2007

On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1.

scientific article

Optic gliomas in children with neurofibromatosis type 1.

scientific article published in October 1991

Osteogenesis imperfecta and malignant hyperthermia. Is there a relationship?

scientific article published on September 1996

Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults

scientific article published on 24 August 2018

Osteogenesis imperfecta in Holstein-Friesian calves.

scientific article published in March 1994

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

scientific article published in January 2013

Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV.

scientific article

Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online

scientific article published on 01 January 1999

Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV

scientific article published on 01 July 1997

Patients With Medium-Chain Acyl–Coenzyme A Dehydrogenase Deficiency Have Impaired Oxidation of Fat During Exercise but No Effect ofl-Carnitine Supplementation

scientific article published on 20 February 2013

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

scientific article published on 17 February 2019

Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

scientific article published in January 2003

Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report

article

Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.

scientific article published on 17 January 2017

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

scientific article published on 20 January 2017

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

scientific article

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

scientific article published on 8 May 2012

Protein-losing enteropathy in a child with junctional epidermolysis bullosa and pyloric atresia

scientific article published on 01 January 1995

Questions about a vegan diet should be included in differential diagnostics of neurologically abnormal infants with failure to thrive

scientific article published on 21 April 2019

Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia

scientific article published on 17 May 2019

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

scientific article published on 31 January 2019

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

scientific article published on 19 March 2014

Research activity and capability in the European reference network MetabERN

scientific article published on 29 May 2019

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

scientific article published on 22 May 2014

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

scientific article published in June 1993

Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

scientific article published on 01 January 1997

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

scientific article published on 26 November 2017

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

scientific article published on 2 June 2016

Splenomegaly and failure to thrive as a result of Gaucher disease ⬇️

scientific article published in September 2015

The Angelman syndrome. Does the phenotype depend on maternal inheritance?

scientific article published on 01 July 1991

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

scientific article

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

scientific article published on 29 September 2020

The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model

scientific article published on 11 January 2022

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

scientific article published on 01 October 2018

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

scientific article published on 11 January 2018

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

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

scientific article published on 15 April 2015

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

scientific article

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

scientific article published on 01 January 2019

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study

scientific article published on 16 February 2018

Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)

scientific article

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

scientific article

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

scientific article published on 29 May 2012

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

scientific article published on 01 November 1996

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

scientific journal article

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

scientific article published on 20 July 2006

What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?

scientific article published in January 2003

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

scientific article published on 11 December 2013

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

scientific article

[Child abuse and osteogenesis imperfecta. How do we distinguish?]

scientific article published on 01 March 2000

[Clinical aspects of Marfan syndrome]

scientific article published on 01 January 2011

[Congenital methaemoglobinaemia: an infrequent cause of neonatal cyanosis]

scientific article published on 01 August 2008

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

scientific article published on 01 November 2002

[Diagnosis of seizures in the neonatal period] ⬇️

[Diagnostics and treatment of phenylketonuria] ⬇️

scientific article published in February 2015

[Ehlers-Danlos syndrome] ⬇️

scientific article published on 01 April 2016

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

scientific article published on 01 November 2010

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

scientific article published on 01 August 2011

[Increased nuchal translucency in osteogenesis imperfecta]

scientific article published on 01 March 2011

[Isovaleric acidaemia--a rare and serious defect in the metabolism of leucine]

scientific article published on 01 April 2011

[Metabolic disease or shaken baby syndrome?]

scientific article published on 01 August 2003

[Neurofibromatosis type 1 in children]

scientific article published in May 1994

[Onset of hereditary metabolic encephalopathy can be seen after the neonatal period] ⬇️

[Optimising treatment for people with rare diseases]

scientific article published on 01 April 2006

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

scientific article

[Shaken baby syndrome]

scientific article published on 01 November 1998

[Treatment of inborn metabolic disorders]

scientific article published on 01 November 2002

[Vascular Ehlers-Danlos syndromes--biochemical and molecular-genetic investigations]

scientific article published on 01 February 2006

l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

scientific article published on 13 September 2018

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