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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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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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Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

International journal of neonatal screening, 2019-05, Vol.5 (2), p.19-19

2019

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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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Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Genetics in medicine, 2016-10, Vol.18 (10), p.991-1000

2016

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The impact of consanguinity on the frequency of inborn errors of metabolism

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.6-10

2018

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Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100586-100586, Article 100586

2020

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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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Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

International journal of neonatal screening, 2017-03, Vol.3 (1), p.1

2017

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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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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

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

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

Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

The impact of consanguinity on the frequency of inborn errors of metabolism

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

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

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders

Neonatal Screening for Primary Carnitine Deficiency: Lessons Learned from the Faroe Islands

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

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