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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

The New England journal of medicine, 2017-10, Vol.377 (17), p.1630-1638

2017

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Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555

2016

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Open‐label, single‐center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.355-365

2024

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OP58 Challenges In Maintaining Up To Date Health Technology Assessments in Rare Diseases: Lessons From Fabry Disease In Australia

International journal of technology assessment in health care, 2023-12, Vol.39 (S1), p.S16-S16

2023

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Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Lancet neurology, 2021-12, Vol.20 (12), p.1027-1037

2021

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Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Journal of the neurological sciences, 2023-04, Vol.447, p.120597-120597, Article 120597

2023

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Biallelic IARS2 mutations presenting as sideroblastic anemia

Haematologica (Roma), 2021-04, Vol.106 (4), p.1220

2021

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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

Nutrients, 2023-01, Vol.15 (3), p.531

2023

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P016: Results of an open-label, single-center, clinical study evaluating the safety and tolerability of pentosan polysulfate sodium in mucopolysaccharidosis I subjects

Genetics in Medicine Open, 2023, Vol.1 (1), p.100026, Article 100026

2023

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A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.144-144, Article 144

2017

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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

JIMD reports, 2022-07, Vol.63 (4), p.271-275

2022

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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Npj genomic medicine, 2019-11, Vol.4 (1), p.1-8, Article 28

2019

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P021: Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory and non-ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Genetics in Medicine Open, 2023, Vol.1 (1), p.100031, Article 100031

2023

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Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.148-157

2014

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PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study

Metabolism, clinical and experimental, 2022-03, Vol.128, p.155116, Article 155116

2022

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PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107490, Article 107490

2023

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Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107971, Article 107971

2024

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Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.127-139

2022

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Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1

Blood, 2022-03, Vol.139 (12), p.1833-1849

2022

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Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107042, Article 107042

2023

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Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108251, Article 108251

2024

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Intrathecal idursulfase-IT safety and efficacy in patients with neuronopathic mucopolysaccharidosis II: phase 2/3 extension study 3-year results

Molecular genetics and metabolism, 2021-04, Vol.132, p.S139-S140

2021

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eP222 - Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis II: evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

Molecular genetics and metabolism, 2021-04, Vol.132, p.S142-S143

2021

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OP096 - Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

Molecular genetics and metabolism, 2021-04, Vol.132, p.S67-S67

2021

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Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

Molecular genetics and metabolism, 2021-04, Vol.132, p.S67

2021

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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

Open‐label, single‐center, clinical study evaluating the safety, tolerability and clinical effects of pentosan polysulfate sodium in subjects with mucopolysaccharidosis I

OP58 Challenges In Maintaining Up To Date Health Technology Assessments in Rare Diseases: Lessons From Fabry Disease In Australia

Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

Biallelic IARS2 mutations presenting as sideroblastic anemia

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

P016: Results of an open-label, single-center, clinical study evaluating the safety and tolerability of pentosan polysulfate sodium in mucopolysaccharidosis I subjects

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease

A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

P021: Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory and non-ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Promoting psychological well-being in women with phenylketonuria: Pregnancy-related stresses, coping strategies and supports

PTC923 (sepiapterin) lowers elevated blood phenylalanine in subjects with phenylketonuria: a phase 2 randomized, multi-center, three-period crossover, open-label, active controlled, all-comers study

PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA

Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1

Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)

Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

Intrathecal idursulfase-IT safety and efficacy in patients with neuronopathic mucopolysaccharidosis II: phase 2/3 extension study 3-year results

eP222 - Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis II: evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

OP096 - Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

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