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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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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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Fabry‐specific treatment in Australia: time to align eligibility criteria with international best practices

Internal medicine journal, 2024-06, Vol.54 (6), p.882-890

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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Serial fatty acid profiles in a preterm infant with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Pediatrics international, 2019-04, Vol.61 (4), p.415-416

2019

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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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Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Internal medicine journal, 2022-01, Vol.52 (1), p.110-120

2022

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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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Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1330-1336

2015

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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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Liver transplantation for acute-on-chronic liver failure due to carnitine palmitoyl transferase (CPT) 1A deficiency

Liver transplantation, 2024-01, Vol.30 (1), p.107-109

2024

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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 (S21.003)

Neurology, 2024-04, Vol.102 (17_supplement_1)

2024

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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) (S48.007)

Neurology, 2023-04, Vol.100 (17_supplement_2)

2023

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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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Cipaglucosidase alfa/miglustat Versus alglucosidase alfa/placebo in Late-onset Pompe Disease (LOPD): PROPEL Study Subgroup Analyses (S8.002)

Neurology, 2022-05, Vol.98 (18_supplement)

2022

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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

Fabry‐specific treatment in Australia: time to align eligibility criteria with international best practices

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

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

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

Serial fatty acid profiles in a preterm infant with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

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

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

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

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review

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

Liver transplantation for acute-on-chronic liver failure due to carnitine palmitoyl transferase (CPT) 1A deficiency

Effect Size Analysis of Cipaglucosidase Alfa Plus Miglustat Versus Alglucosidase Alfa in ERT-experienced Adults with Late-onset Pompe Disease in PROPEL (S21.003)

Long-term Follow-up of Cipaglucosidase Alfa/Miglustat in Ambulatory Patients with Pompe Disease: An Open-label Phase I/II Study (ATB200-02) (S48.007)

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

Cipaglucosidase alfa/miglustat Versus alglucosidase alfa/placebo in Late-onset Pompe Disease (LOPD): PROPEL Study Subgroup Analyses (S8.002)

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