Ksenija Fumic

Zagreb, 10000, Croatia

Last Updated: 09/26/2026

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Found 34 publications

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Journal: International journal of neonatal screening

Published: May 07, 2026

The biomarkers uCTX-II, CS846 and IGF-1 are associated with clinical and ultrasound scores in haemophilic arthropathy: a cross-sectional study.

The biomarkers uCTX-II, CS846 and IGF-1 are associated with clinical and ultrasound scores in haemophilic arthropathy: a cross-sectional study.

Journal: Rheumatology international

Published: January 31, 2026

Current Status of Newborn Screening in Southeastern and Central Europe.

Current Status of Newborn Screening in Southeastern and Central Europe.

Journal: International journal of neonatal screening

Published: December 30, 2025

Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.

Laboratory diagnostics in personalised medicine - 36th Symposium of the Croatian society of medical biochemistry and laboratory medicine.

Journal: Biochemia medica

Published: December 03, 2025

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.

Journal: International journal of neonatal screening

Published: May 29, 2024

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Journal: JIMD reports

Published: January 23, 2024

Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.

Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.

Journal: JIMD reports

Published: October 05, 2023

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.

Journal: Orphanet journal of rare diseases

Published: July 14, 2022

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Journal: Journal of inherited metabolic disease

Published: April 27, 2022

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 31, 2021

Current Status of Newborn Screening in Southeastern Europe.

Current Status of Newborn Screening in Southeastern Europe.

Journal: Frontiers in pediatrics

Published: January 02, 2021

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 02, 2020

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Last Updated: 09/26/2026