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Št. zadetkov: 2
Age, gender, and BMI in presentation of primary hyperparathyroidismchallenges
Katarina Mlekuš, Katarina Mlekuš, Gaj Vidmar, Mojca Jensterle Sever, Luka Ležaič, Marko Hočevar, Sončka Jazbinšek, Katarina Remec, Andrej Janež, Tomaž Kocjan
Izvirni znanstveni članek
Oznake: primary hyperparathyroidism;hypercalcemia;osteoporosis;
Background: Primary hyperparathyroidism (PHPT) is a relatively common disease with considerable heterogeneity. We aimed to assess the impact of age, gender, and body mass index (BMI) on the presentation of PHPT. Material and methods: We retrospectively analyzed the baseline biochemical status, sympt ...
Leto: 2025 Vir: Onkološki inštitut Ljubljana (OI)
Sudden death of a four-day-old newborn due to mitochondrial trifunctional protein/long-chain 3-hydroxyacyl-coa dehydrogenase deficiencies and a systematic literature review of early deaths of neonates with fatty acid oxidation disorders
Ana Drole Torkar, Ana Drole Torkar, Ana Klinc, Žiga Iztok Remec, Branislava Ranković, Klara Bartolj, Sara Bertok, Sara Colja, Vanja Čuk, Maruša Debeljak, Eva Kozjek, Barbka Repič-Lampret, Matej Mlinarič, Tinka Mohar Hajnšek, Daša Perko, Katarina Štajer, Tine Tesovnik, Domen Trampuž, Blanka Ulaga, Jernej Kovač, Tadej Battelino, Mojca Žerjav-Tanšek, Urh Grošelj, Urh Grošelj
Pregledni znanstveni članek
Oznake: FAOD;LCHAD deficiency;LCHADD;MTP deficiency;MTPD;NBS;fatty acid oxidation disorder;newborn;newborn screening;sudden infant death;
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of MTPD/LCHADD in a term newborn. The girl was born after an une ...
Leto: 2025 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 2
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