Publications by authors named "Marusa Debeljak"

43 Publications

Correction: Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.

Klin Padiatr 2020 Nov 26;232(6):e12. Epub 2020 Nov 26.

Unit for Special Laboratory Diagnostics, University Medical Centre Ljubljana, Division of Paediatrics, Ljubljana, Slovenia.

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November 2020

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.

Zdr Varst 2020 Dec 18;59(4):256-263. Epub 2020 Oct 18.

University Medical Centre Ljubljana, University Children's Hospital, Department of Endocrinology, Diabetes and Metabolic Diseases, Bohoričeva 20, 1000 Ljubljana, Slovenia.

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December 2020

Association of CEP72 rs924607 TT Genotype with Vincristine-induced Peripheral Neuropathy Measured by Motor Nerve Conduction Studies.

Klin Padiatr 2020 Nov 2;232(6):331-333. Epub 2020 Sep 2.

Unit for Special Laboratory Diagnostics, University Medical Centre Ljubljana, Division of Paediatrics, Ljubljana, Slovenia.

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November 2020

and Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome.

Front Immunol 2020 23;11:1322. Epub 2020 Jul 23.

Department of Allergology, Rheumatology and Clinical Immunology, University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.

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July 2020

Extracellular Vesicles Derived Human-miRNAs Modulate the Immune System in Type 1 Diabetes.

Front Cell Dev Biol 2020 31;8:202. Epub 2020 Mar 31.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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March 2020

SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.

Nefrologia 2020 Jul - Aug;40(4):421-428. Epub 2020 Feb 26.

University Medical Centre Ljubljana, University Children's Hospital, Institute for Special Laboratory Diagnostics, Ljubljana, Slovenia; University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Ljubljana, Slovenia. Electronic address:

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February 2020

Challenges in identifying large germline structural variants for clinical use by long read sequencing.

Comput Struct Biotechnol J 2020 23;18:83-92. Epub 2019 Dec 23.

Clinical Institute of Special Laboratory Diagnostics, University Children's Hospital, UMC, Ljubljana, Slovenia.

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December 2019

von Willebrand factor alloantibodies in type 3 von Willebrand disease.

Blood Coagul Fibrinolysis 2020 Jan;31(1):77-79

Unity of Special Laboratory Diagnostic, University Medical Centre Ljubljana, University Children's Hospital.

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January 2020

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.

Front Immunol 2018 21;9:500. Epub 2018 Mar 21.

Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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April 2019

Electrophysiological Studies to Detect Peripheral Neuropathy in Children Treated With Vincristine.

J Pediatr Hematol Oncol 2017 05;39(4):266-271

*Department of Pediatric Hematology and Oncology §Department of Neurology ∥Unit of Special Laboratory Diagnostics, University Children's Hospital of Ljubljana †Institute of Clinical Neurophysiology, UMC Ljubljana Departments of ‡Neurology ¶Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

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May 2017

Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.

J Clin Immunol 2016 11 31;36(8):764-773. Epub 2016 Aug 31.

Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital Ljubljana, University Medical Center Ljubljana, Ljubljana, Slovenia.

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November 2016

The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations.

Clin Exp Rheumatol 2015 Nov-Dec;33(6 Suppl 94):S19-23. Epub 2015 Sep 24.

Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center; and Faculty of Medicine, University of Ljubljana, Slovenia.

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January 2016

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).

Biochem Med (Zagreb) 2015 5;25(2):279-84. Epub 2015 Jun 5.

University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia ; University of Ljubljana, Faculty of Medicine, Department of Paediatrics, Ljubljana, Slovenia.

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August 2015

Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Blood Transfus 2015 Oct 15;13(4):622-30. Epub 2015 May 15.

Unit for Haematology and Oncology, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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October 2015

Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.

Mediators Inflamm 2015 4;2015:293417. Epub 2015 Mar 4.

Department of Allergology, Rheumatology and Clinical Immunology, University Children's Hospital, University Medical Center, Bohoričeva 20, 1000 Ljubljana, Slovenia ; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

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April 2016

The association of folate pathway and DNA repair polymorphisms with susceptibility to childhood acute lymphoblastic leukemia.

Gene 2015 May 5;562(2):203-9. Epub 2015 Mar 5.

University of Ljubljana, Faculty of Medicine, Institute of Biochemistry, Pharmacogenetics Laboratory, Vrazov trg 2, 1000 Ljubljana, Slovenia. Electronic address:

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May 2015

Polymorphisms in GRIA1 gene are a risk factor for asparaginase hypersensitivity during the treatment of childhood acute lymphoblastic leukemia.

Leuk Lymphoma 2015 30;56(11):3103-8. Epub 2015 Mar 30.

a Department of Hematology and Oncology , University Children's Hospital , Ljubljana , Slovenia.

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September 2016

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population.

J Med Biochem 2015 Jan 8;34(1):58-63. Epub 2014 Oct 8.

Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

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January 2015

The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma.

Radiol Oncol 2014 Sep 10;48(3):289-92. Epub 2014 Jul 10.

Pharmacogenetics Laboratory, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

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September 2014