Diagnosis and early management of acute hyperammonaemia by Mojca Žerjav Tanšek, Nevenka Bratanič, Tadej Battelino

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INBORN ERRORS OF METABOLISM AND METABOLIC WORK-UP IN AUTISM SPECTRUM DISORDERS by Anja Krivec Penič, Živa Prijatelj, Manca Ločičnik, Mojca Žerjav Tanšek

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Genetic and clinical characteristics of patients with phenylketonuria in Slovenia by Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tadej Battelino

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PRIROJENE PRESNOVNE BOLEZNI IN DIAGNOSTICIRANJE SPEKTROAVTISTIČNIH MOTENJ by Anja Krivec Penič, Živa Prijatelj, Manca Ločičnik, Mojca Žerjav Tanšek

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A patient with glycogen storage disease type 0 and a novel sequence variant in : a case report and literature review by Janez Jan Arko, Marusa Debeljak, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj

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Clinical role of CYP2C19 polymorphisms in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Urh Grošelj, Mojca Žerjav Tanšek, Katarina Trebušak Podkrajšek, Tinka Hovnik, Tadej Battelino, Vita Dolžan

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Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH4)-responsiveness in patients with hyperphenylalaninemia by Barbka Repic Lampret, Mojca Zerjav Tansek, Blaz Groselj, Jaka Sikonja, Tadej Battelino, Urh Groselj

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Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA by Tatiana Marusic, Mojca Zerjav Tansek, Andreja Sirca Campa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Groselj

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Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia by Mojca Zerjav Tansek, Ana Bertoncel, Brina Sebez, Janez Zibert, Urh Groselj, Tadej Battelino, Magdalena Avbelj Stefanija

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Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa by Tatiana Marusic, Mojca Zerjav Tansek, Andreja Sirca Campa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Groselj

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Final height and body mass index after treatment for childhood acute lymphoblastic leukemia by Tadej Battelino, Nina Bratanič, Nataša Uršič-Bratina, Mojca Žerjav-Tanšek, Janez Jazbec, Lorna Zaletel-Zadravec, Ciril Kržišnik

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GENSKO ZDRAVLJENJE PRI MUKOPOLISAHARIDOZI TIPA IIIA: PREDSTAVITEV PRIMEROV by Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj

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GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS by Benjamin Lah, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, Urh Grošelj

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Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (<i>THRB</i>) Gene by Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj

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Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation by Neli Bizjak, Mojca Zerjav Tansek, Magdalena Avbelj Stefanija, Barbka Repic Lampret, Ajda Mezek, Ana Drole Torkar, Tadej Battelino, Urh Groselj

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Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature rev... by Neza Molk, Mojca Bitenc, Darja Urlep, Darja Urlep, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Sara Bertok, Sara Bertok, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Ursa Sustar, Ursa Sustar, Jernej Kovac, Jernej Kovac, Tadej Battelino, Tadej Battelino, Marusa Debeljak, Marusa Debeljak, Urh Groselj, Urh Groselj

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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel mutations identified in a retrospective screening by Andraz Smon, Urh Groselj, Marusa Debeljak, Mojca Zerjav Tansek, Sara Bertok, Magdalena Avbelj Stefanija, Katarina Trebusak Podkrajsek, Tadej Battelino, Barbka Repic Lampret

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Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant by Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger

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Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program by Dasa Perko, Barbka Repic Lampret, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Urh Groselj

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SCREENING FOR HYPERCHOLESTEROLEMIA IN 5 YEAR OLD CHILDREN IN SLOVENIA by Nataša Uršič-Bratina, Nada Saje-Hribar, Nina Bratanič, Mojca Žerjav-Tanšek, Vojko Berce, Ciril Kržišnik, Tadej Battelino, za Stalno strokovno skupino za predšolsko medicino

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