Drago Bratkovic

72 King William Rd
North Adelaide, SA 5006, Australia

Last Updated: 09/26/2026

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Found 49 publications

Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use.

Transient abnormal acylcarnitine profile in newborn screening mimicking multiple acyl-Coenzyme A dehydrogenase deficiency associated with maternal sertraline use.

Journal: Molecular genetics and metabolism reports

Published: March 13, 2026

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.

NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study.

Journal: BMJ open

Published: March 11, 2026

Semi-automated genomic newborn screening highlights complexities in reporting.

Semi-automated genomic newborn screening highlights complexities in reporting.

Journal: NPJ genomic medicine

Published: August 08, 2025

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 01, 2025

Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

Journal: Journal of neurology

Published: February 17, 2025

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

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

Journal: The Tohoku journal of experimental medicine

Published: November 06, 2024

Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands.

Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands.

Journal: Journal of health economics and outcomes research

Published: October 28, 2024

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

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

Journal: Cells

Published: August 04, 2024

Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.

Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL.

Journal: Muscle & nerve

Published: June 27, 2024

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.

Journal: JIMD reports

Published: May 22, 2024

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.

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.

Journal: Lancet (London, England)

Published: May 13, 2024

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

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

Journal: Journal of inherited metabolic disease

Published: May 07, 2024

Showing 1-12 of 49

Last Updated: 09/26/2026