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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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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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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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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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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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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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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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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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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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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, 2016-09, Vol.39 (5), p.661-672

2016

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Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Journal of medical genetics, 2013-11, Vol.50 (11), p.754-759

2013

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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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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

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

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

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

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

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

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

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

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

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

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

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

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

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