Bojana Rakic

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 14 publications

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

Journal: American journal of medical genetics. Part A

Published: August 06, 2025

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.

Journal: NPJ genomic medicine

Published: March 28, 2025

Inhibition of xanthine oxidoreductase with febuxostat, but not allopurinol, prevents inflammasome assembly and IL-1β release.

Inhibition of xanthine oxidoreductase with febuxostat, but not allopurinol, prevents inflammasome assembly and IL-1β release.

Journal: Life science alliance

Published: December 24, 2024

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

MBOAT7 encephalopathy: Characterizing the neurology and epileptology.

Journal: Epilepsia

Published: December 03, 2024

Macrocytosis in Mitochondrial DNA Deletion Syndromes.

Macrocytosis in Mitochondrial DNA Deletion Syndromes.

Journal: Acta haematologica

Published: November 23, 2022

A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.

A simple method modification to increase separation of 2- and 3-hydroxyglutaric acid by GC-MS for clinical urine organic acids analysis.

Journal: Clinical biochemistry

Published: January 10, 2022

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Journal: Journal of clinical medicine

Published: June 25, 2021

Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.

Analysis of 2-methylcitric acid, methylmalonic acid, and total homocysteine in dried blood spots by LC-MS/MS for application in the newborn screening laboratory: A dual derivatization approach.

Journal: Journal of mass spectrometry and advances in the clinical lab

Published: November 23, 2020

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: April 04, 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Journal: Molecular genetics and metabolism reports

Published: July 06, 2018

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Journal: JCI insight

Published: May 24, 2018

Exome Sequencing and the Management of Neurometabolic Disorders.

Exome Sequencing and the Management of Neurometabolic Disorders.

Journal: The New England journal of medicine

Published: June 09, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026