Search Results - "Čulo Čagalj, Ivana"
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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
Published in JIMD reports (01-09-2024)“…Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause of acute liver failure. Clinical presentation is nonspecific…”
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2
Late-Onset Hypertrophic Pyloric Stenosis in a 14-Weeks-Old Full Term Male Infant
Published in Acta medica Lékarskí fakulty Univerzity Karlovy v Hradci Králove (2019)“…Background: Hypertrophic pyloric stenosis is the most common cause of gastric outlet obstruction in infants, and classically presents at 2 to 6 weeks of age…”
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3
Feather foreign body caused periparotid and peritonsillar abscess in a 9-month-old girl
Published in Auris, nasus, larynx (01-10-2021)“…Migratory foreign body appeared to be bird feather, caused peritonsillar and periparotid abscess in a nine-month-old infant. Patient presented painful, tender…”
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4
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency
Published in Journal of inherited metabolic disease (01-11-2022)“…Acetyl‐CoA transporter 1 (AT‐1) is a transmembrane protein which regulates influx of acetyl‐CoA from the cytosol to the lumen of the endoplasmic reticulum and…”
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Late-Onset Hypertrophic Pyloric Stenosis in a 14-Weeks-Old Full Term Male Infant
Published in Acta medica (Hradec Kralove) (2019)“…Hypertrophic pyloric stenosis is the most common cause of gastric outlet obstruction in infants, and classically presents at 2 to 6 weeks of age. Delayed…”
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