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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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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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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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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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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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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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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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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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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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Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

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

2008

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

Journal of inherited metabolic disease, 2014-03, Vol.37 (2), p.223-230

2014

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

Scandinavian journal of clinical and laboratory investigation, 2017-11, Vol.77 (8), p.617-621

2017

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

International journal of gynecological pathology, 2016-01, Vol.35 (1), p.38-40

2016

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Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.495-500

2010

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OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Human mutation, 2010, Vol.31 (1), p.20-26

2010

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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

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.386-391

2014

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Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

European journal of medical genetics, 2023-03, Vol.66 (3), p.104698-104698, Article 104698

2023

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Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.705-719

2023

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

The journal of clinical endocrinology and metabolism, 2018-12, Vol.103 (12), p.4580-4588

2018

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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

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

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

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

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

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

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

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

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence

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

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

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

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

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

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

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

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

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

Long‐term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha‐mannosidosis: A phase 2, open label, multicenter study

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

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