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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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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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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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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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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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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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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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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 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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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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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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Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Molecular genetics and metabolism, 2019-04, Vol.126 (4), p.397-405

2019

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

Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.657-657

2014

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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.787-796

2012

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Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108515, Article 108515

2024

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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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The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.586-594

2023

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Newborn screening for adrenoleukodystrophy: International experiences and challenges

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

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

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

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

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

Increased risk of sudden death in untreated primary carnitine deficiency

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

The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey

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

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

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

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

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

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3

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

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria

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