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Ksenija Fumić

University of Zagreb

240

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1014

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

2021 European Journal of Paediatric Neurology
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106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations

2021 Archives of Disease in Childhood
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Current Status of Newborn Screening in Southeastern Europe

2021 Frontiers in Pediatrics
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107 Early onset liver failure due to mitochondrial DNA depletion: clinical course of four patients

2021 Archives of Disease in Childhood
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104 Hypoketotic hypoglycemia and hyperammonemia as presenting features of early onset multiple acyl-CoA dehydrogenase deficiency

2021 Archives of Disease in Childhood
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Manjak lizosomske kisele lipaze: rijetka nasljedna bolest prerušena u nealkoholnu bolest masne jetre s dislipidemijom

2020 Lijec̆nic̆ki vjesnik
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Galaktozemija u Republici Hrvatskoj: klinički izražaj i genotip

2019 Paediatria Croatica
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Two siblings with sialidosis type II: clinical, biochemical and neuroradiological study

2019 Neuropediatrics
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Circulating YKL-40 in Philadelphia-negative myeloproliferative neoplasms

2019 Acta Clinica Belgica
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The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias

2019 Klinische Padiatrie
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