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22. 15 years of Niemann Pick C in Australia

Journal of clinical neuroscience, 2010-12, Vol.17 (12), p.1616-1616

2010

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61 - Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial

Biology of blood and marrow transplantation, 2018-03, Vol.24 (3), p.S73-S74

2018

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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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Automated Robust Design and Optimization of Integrated Circuits by Means of Penalty Functions

International journal of electronics and communications, 2003, Vol.57 (1), p.47-56

2003

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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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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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Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening

Pathology, 2020-02, Vol.52, p.S60-S60

2020

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Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

Pathology, 2014-01, Vol.46 (1), p.41-45

2014

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Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

JIMD Reports, Volume 34, 2017-01, Vol.34, p.1-9

2017

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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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Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

The Lancet (British edition), 2024-10, Vol.404 (10460), p.1333-1345

2024

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eP157: Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study

Genetics in medicine, 2022-03, Vol.24 (3), p.S96-S96

2022

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Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

Journal of inherited metabolic disease, 2024-09

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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First-in-human Study of ATB200/AT2221 in Patients with Pompe Disease: Preliminary Results From the ATB200-02 Trial (S22.003)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1

Tohoku journal of experimental medicine, 2024, Article 2024.J132

2024

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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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A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1 -Associated Neurodevelopmental Syndrome

Cells (Basel, Switzerland), 2024-08, Vol.13 (17), p.1457

2024

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

NPJ genomic medicine, 2019, Vol.4, p.28-28

2019

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Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

JIMD Reports, Volume 19, 2015-01, Vol.19, p.95-100

2015

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Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial

Biology of blood and marrow transplantation, 2018-03, Vol.24 (3), p.S73-S74

2018

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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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22. 15 years of Niemann Pick C in Australia

61 - Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial

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

Automated Robust Design and Optimization of Integrated Circuits by Means of Penalty Functions

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Biallelic IARS2 mutations presenting as sideroblastic anemia

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

Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

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

Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

eP157: Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study

Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II

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

First-in-human Study of ATB200/AT2221 in Patients with Pompe Disease: Preliminary Results From the ATB200-02 Trial (S22.003)

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1 -Associated Neurodevelopmental Syndrome

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

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

Interim Results from a Phase 2/3 Study of the Efficacy and Safety of Ex Vivo Gene Therapy With Lentiviral Vector (Lenti-D) for Childhood Cerebral Adrenoleukodystrophy (PL02.002)

Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia

Lenti-D Hematopoietic Stem Cell Gene Therapy to Arrest Progression of Cerebral Adrenoleukodystrophy: Interim Results of an International Phase 2/3 Trial

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

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