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  • Expanded newborn screening ... Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing
    Lampret, Barbka Repič; Remec, Žiga Iztok; Torkar, Ana Drole ... Zdravstveno varstvo, 12/2020, Volume: 59, Issue: 4
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    In the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for ...
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  • Prikaz primera prvega uspeš... Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini
    Jalšovec, Tadej; Lah, Benjamin; Bernardo, Maria Ester ... Zdravniški vestnik (Ljubljana, Slovenia : 1992), 12/2022, Volume: 91, Issue: 11-12
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    Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane, polisaharide, ki se povezujejo s ...
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  • Clinical and genetic charac... Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
    Štajer, Katarina; Kovač, Neja; Šikonja, Jaka ... Molecular genetics and metabolism reports, 09/2023, Volume: 36
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    Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical ...
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  • A New Case of an Extremely ... A New Case of an Extremely Rare 3p21.31 Interstitial Deletion
    Lovrecic, Luca; Bertok, Sara; Žerjav Tanšek, Mojca Molecular syndromology, 05/2016, Volume: 7, Issue: 2
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    Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a ...
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  • PRIROJENE PRESNOVNE BOLEZNI... PRIROJENE PRESNOVNE BOLEZNI IN DIAGNOSTICIRANJE SPEKTROAVTISTIČNIH MOTENJ
    Krivec Penič, Anja; Prijatelj, Živa; Ločičnik, Manca ... Slovenska pediatrija, 03/2021, Volume: 28, Issue: 1
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    Spektroavtistične motnje (SAM) so kompleksne razvojne motnje, ki se kažejo predvsem kot kakovostno spremenjeno vedenje na področju socialnih interakcij, besedne in nebesedne komunikacije ter ...
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  • Angiokeratomas and treatmen... Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease
    Sabovic, Eva Klara Merzel; Tansek, Mojca Zerjav; Groselj, Urh ... Acta dermatovenerologica Alpina, Panonica, et Adriatica, 01/2020, Volume: 29, Issue: 2
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    Angiokeratomas are the cutaneous hallmark of Fabry disease. Although it is well established that enzyme replacement therapy (ERT) prevents or slows the progression of disease on target organs in the ...
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  • GENSKO ZDRAVLJENJE PRI MUKO... GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV
    Lah, Benjamin; Jalšovec, Tadej; Drole Torkar, Ana ... Slovenska pediatrija, 05/2022, Volume: 29, Issue: 2
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    Mukopolisaharidoze so lizosomske bolezni kopičenja, pri katerih se klinična slika razvija postopno. Bolezni napredujejo in prizadenejo številne organe. S trenutno dostopnimi možnostmi zdravljenja ...
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  • Compound Heterozygote Mutat... Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A
    Kavčič, Alja; Homan, Matjaž; Živanović, Milanka ... The American journal of case reports, 11/2022, Volume: 23
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    BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe ...
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  • Selective Screening for Met... Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
    Lampret, Barbka Repič; Murko, Simona; Tanšek, Mojca Žerjav ... Journal of medical biochemistry, 01/2015, Volume: 34, Issue: 1
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    Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they ...
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  • Towards a Comprehensive Str... Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach
    Stanimirovic, Dalibor; Murko, Eva; Battelino, Tadej ... International journal of environmental research and public health, 11/2021, Volume: 18, Issue: 23
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    Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian healthcare system. One of the potential ...
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