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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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Splenomegaly - Diagnostic validity, work-up, and underlying causes

PloS one, 2017-11, Vol.12 (11), p.e0186674-e0186674

2017

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

European journal of pediatrics, 2008-03, Vol.167 (3), p.267-277

2008

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

Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.215-222

2014

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Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

The lancet. Diabetes & endocrinology, 2021-07, Vol.9 (7), p.427-435

2021

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Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

Developmental medicine and child neurology, 2022-06, Vol.64 (6), p.789-798

2022

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

Nephrology, dialysis, transplantation, 2019-09, Vol.34 (9), p.1525-1533

2019

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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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Increased risk of sudden death in untreated primary carnitine deficiency

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.290-296

2020

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

Advances in therapy, 2019-07, Vol.36 (7), p.1786-1811

2019

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

Advances in therapy, 2024-04, Vol.41 (4), p.1765-1769

2024

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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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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

Splenomegaly - Diagnostic validity, work-up, and underlying causes

Newborn screening for adrenoleukodystrophy: International experiences and challenges

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

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

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

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

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

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

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

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

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

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

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

Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

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

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

Increased risk of sudden death in untreated primary carnitine deficiency

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

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

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

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

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