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

Journal of inherited metabolic disease, 2018-11, Vol.41 (6), p.1225-1233

2018

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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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Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

JIMD reports, 2021-05, Vol.59 (1), p.10-15

2021

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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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P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry

Genetics in Medicine Open, 2023, Vol.1 (1), p.100014, Article 100014

2023

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O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry

Genetics in Medicine Open, 2023, Vol.1 (1), p.100003, Article 100003

2023

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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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FindZebra online search delving into rare disease case reports using natural language processing

PLOS digital health, 2023-06, Vol.2 (6), p.e0000269-e0000269

2023

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P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

Genetics in Medicine Open, 2024, Vol.2, p.101385, Article 101385

2024

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Genotype and phenotype classification of 29 patients affected by Krabbe disease

JIMD reports, 2019-03, Vol.46 (1), p.35-45

2019

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Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

JIMD reports, 2023-03, Vol.64 (2), p.187-198

2023

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Zur interpretatio Romana in der ,Germania' des Tacitus

Zeitschrift für Religions- und Geistesgeschichte, 2007-10, Vol.59 (4), p.289-310

LUND, Allan A

2007

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Zur Verbrennung der sogenanten Chrestiani (Tac. Ann. 15,44)

Zeitschrift für Religions- und Geistesgeschichte, 2008-06, Vol.60 (3), p.253-261

LUND, Allan A

2008

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

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.743-744

2018

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The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107817, Article 107817

2024

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Evaluation of 2 patients with alpha-mannosidosis and history of conductive hearing impairment participating in a placebo-controlled, phase 3 program receiving velmanase alfa (human recombinant alpha-mannosidase)

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S67-S67

2021

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Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107866, Article 107866

2024

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Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

Acta myologica, 2020-03, Vol.39 (1), p.19-23

2020

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Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107232, Article 107232

2023

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Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE registry

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107130, Article 107130

2023

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Case 2: Suspected non-accidental injury

Acta pædiatrica (Oslo), 2006-10, Vol.95 (10), p.1322-3; discussion 1325-6

2006

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

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

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

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

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

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

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

P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry

O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry

Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

FindZebra online search delving into rare disease case reports using natural language processing

P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

Genotype and phenotype classification of 29 patients affected by Krabbe disease

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long‐term velmanase alfa treatment outcomes in patients with alpha‐mannosidosis

Zur interpretatio Romana in der ,Germania' des Tacitus

Zur Verbrennung der sogenanten Chrestiani (Tac. Ann. 15,44)

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

The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry

Evaluation of 2 patients with alpha-mannosidosis and history of conductive hearing impairment participating in a placebo-controlled, phase 3 program receiving velmanase alfa (human recombinant alpha-mannosidase)

Long-term efficacy of velmanase alfa treatment in patients with alpha-mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)

Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE registry

Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE registry

Case 2: Suspected non-accidental injury

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