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The impact of rifaximin on inflammation and metabolism in alcoholic hepatitis: A randomized clinical trial

PloS one, 2022-03, Vol.17 (3), p.e0264278-e0264278

2022

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Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

PloS one, 2023-06, Vol.18 (6), p.e0287268-e0287268

2023

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

PloS one, 2022-01, Vol.17 (1), p.e0261150-e0261150

2022

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

Orphanet journal of rare diseases, 2011-11, Vol.6 (1), p.72-72, Article 72

2011

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

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353

2016

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Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands

JIMD reports, 2023-11, Vol.64 (6), p.453-459

2023

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

Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.705-710

2012

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

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.271-271, Article 271

2020

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

Journal of inherited metabolic disease, 2013-01, Vol.36 (1), p.35-41

2013

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Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

Acta Paediatrica, 2008-11, Vol.97 (11), p.1577-1581

2008

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A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Molecular vision, 2019, Vol.25 (1), p.1-11

2019

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Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay

Pediatrics (Evanston), 2024-06, Vol.153 (6), p.1

2024

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

Journal of nutrition and metabolism, 2018-01, Vol.2018 (2018), p.1-11

2018

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

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100586-100586, Article 100586

2020

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

International journal of neonatal screening, 2019-05, Vol.5 (2), p.19-19

2019

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Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

JIMD reports, 2020-05, Vol.53 (1), p.16-21

2020

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Newborn screening for adrenoleukodystrophy: International experiences and challenges

Molecular genetics and metabolism, 2023-12, Vol.140 (4), p.107734-107734, Article 107734

2023

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

American journal of physiology: Gastrointestinal and liver physiology, 2018-01, Vol.314 (1), p.G91-G96

2018

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

Pediatric pulmonology, 2020-02, Vol.55 (2), p.549-555

2020

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

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057

2015

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

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074

2015

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

Pediatric research, 2018-08, Vol.84 (2), p.228-232

2018

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

Brain (London, England : 1878), 2014-02, Vol.137 (Pt 2), p.366-379

2014

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

Journal of medical genetics, 2013-01, Vol.50 (1), p.21-24

2013

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The impact of rifaximin on inflammation and metabolism in alcoholic hepatitis: A randomized clinical trial

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

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

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

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

Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe Islands

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

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

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

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay

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

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

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

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

Newborn screening for adrenoleukodystrophy: International experiences and challenges

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

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

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

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

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

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

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

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