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Hyperammonaemic encephalopathy in a teenage girl

Journal of paediatrics and child health, 2022-07, Vol.58 (7), p.1270-1271

2022

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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study

American journal of medical genetics. Part A, 2014-08, Vol.164A (8), p.1953-1964

2014

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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.847-856

2021

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Visual impairment in mucopolysaccharidosis VI

JIMD reports, 2023-03, Vol.64 (2), p.129-137

2023

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Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

The Journal of pediatrics, 2006-04, Vol.148 (4), p.533-539.e6

2006

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NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1451-n/a

2020

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Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in immunology, 2019-06, Vol.10, p.1264-1264

2019

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Increased Choroidal Thickness in Morquio Syndrome

Case reports in ophthalmology, 2021-09, Vol.12 (3), p.816-823

2021

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Leukocyte Imbalances in Mucopolysaccharidoses Patients

Biomedicines, 2023-06, Vol.11 (6), p.1699

2023

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SLC37A4‐CDG: Second patient

JIMD reports, 2021-03, Vol.58 (1), p.122-128

2021

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Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies

Case reports in ophthalmological medicine, 2021-04, Vol.2021, p.1-7

2021

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Fundoscopic Changes in Maroteaux-Lamy Syndrome

Case reports in ophthalmological medicine, 2019, Vol.2019 (2019), p.1-4

2019

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P432 Encephalopathy in teenagers – a challenging etiologic diagnosis

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A325

2019

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Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Human molecular genetics, 2009-09, Vol.18 (17), p.3244-3256

2009

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.93-106

2019

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O08: Long-term efficacy and safety of pegzilarginase for arginase 1 deficiency: 2 years of experience in the phase 2 extension study

Genetics in Medicine Open, 2023, Vol.1 (1), p.100009, Article 100009

2023

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Public and patient involvement in health data governance (DATAGov): protocol of a people-centred, mixed-methods study on data use and sharing for rare diseases care and research

BMJ open, 2021-03, Vol.11 (3), p.e044289-e044289

2021

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Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals

International journal of environmental research and public health, 2022-07, Vol.19 (14), p.8788

2022

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Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.340-352

2022

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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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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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Novel MTO1 mutations associated with an intrafamilial phenotypic variability

Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.8, Article 8

2023

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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase

Pediatrics (Evanston), 2005-06, Vol.115 (6), p.e681-e689

2005

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.102-102

2013

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Hyperammonaemic encephalopathy in a teenage girl

Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

Visual impairment in mucopolysaccharidosis VI

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Increased Choroidal Thickness in Morquio Syndrome

Leukocyte Imbalances in Mucopolysaccharidoses Patients

SLC37A4‐CDG: Second patient

Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies

Fundoscopic Changes in Maroteaux-Lamy Syndrome

P432 Encephalopathy in teenagers – a challenging etiologic diagnosis

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

O08: Long-term efficacy and safety of pegzilarginase for arginase 1 deficiency: 2 years of experience in the phase 2 extension study

Public and patient involvement in health data governance (DATAGov): protocol of a people-centred, mixed-methods study on data use and sharing for rare diseases care and research

Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals

Oral treatment for mucopolysaccharidosis VI: Outcomes of the first phase IIa study with odiparcil

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

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Novel MTO1 mutations associated with an intrafamilial phenotypic variability

Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

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