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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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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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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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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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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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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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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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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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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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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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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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Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108519, Article 108519

2024

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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

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1215-1223

2018

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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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Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.220-231

2023

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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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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.220-229

2024

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No effect of triheptanoin in patients with phosphofructokinase deficiency

Neuromuscular disorders : NMD, 2022-04, Vol.32 (4), p.295-304

2022

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

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

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

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

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

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

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

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

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

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

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study

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

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

Increased risk of sudden death in untreated primary carnitine 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

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

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

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency

No effect of triheptanoin in patients with phosphofructokinase deficiency

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