Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine

Authors: Katarina Šikić, Tessa M. A. Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli, Antonio Novelli, Francesca Romana Lepri, Ron A. Wevers, Ivo Barić

Source: JIMD Reports, Vol 65, Iss 6, Pp 361-370 (2024)

Subject Terms: acetylated amino acids, acetyl‐CoA transporter, Huppke–Brendel syndrome, ketogenic diet, N‐acetylcysteine, protein acetylation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/e187b6f8a49a4393abc192ac0ae2ecfa

Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver

Authors: Mihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, Ivana Rako, Slobodan Galić, Toni Matić, Filip Rubić, Ivana Čulo Čagalj, Davor Mayer, Ante Gojević, Stanko Ćavar, Marijana Ćorić, Melanie T. Achleitner, Johannes A. Mayr, Ksenija Fumić, Jurica Vuković, Ivo Barić

Source: JIMD Reports, Vol 65, Iss 5, Pp 323-329 (2024)

Subject Terms: dihydrolipoamide dehydrogenase deficiency, fulminant liver failure, liver transplant, riboflavin responsiveness, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/6a408d88d75b46949de9c20df4a09d5b

Experiences with galactosemia in Croatia

Authors: Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić

Source: Liječnički vjesnik, Vol 145, Iss 1-2, Pp 1-11 (2023)

Subject Terms: galactosemias – complications, diagnosis, genetics, galactose – blood, utp-hexose-1-phosphate uridylyltransferase – deficiency, udp glucose 4-epimerase – deficiency, galactokinase – deficiency, Medicine (General), R5-920

File Description: electronic resource

Relation: https://lijecnicki-vjesnik.hlz.hr/pdf/1-2-2023/01_smaguc.pdf; https://doaj.org/toc/0024-3477; https://doaj.org/toc/1849-2177

Access URL: https://doaj.org/article/172aeb75c94342c59411f163b00e629a

Defining Health-Related Quality of Life in Localized and Advanced Stages of Breast Cancer – the First Step towards Hereditary Cancer Genetic Counseling

Authors: Tamara Žigman, Ivana Lukša, Gloria Mihaljević, Maša Žarković, Iva Kirac, Danko Velimir Vrdoljak, Ljiljana Šerman

Source: Acta Clinica Croatica, Vol 59., Iss 2., Pp 209-215 (2020)

Subject Terms: Breast cancer, Genetic counseling, Quality of life, Cost-benefit analysis, Medicine

File Description: electronic resource

Relation: https://hrcak.srce.hr/file/353966; https://doaj.org/toc/0353-9466; https://doaj.org/toc/1333-9451

Access URL: https://doaj.org/article/0a788ad494d4431bbccfa6c5afbe59c7

Mild carnitine uptake defect due to a novel homozygous mutation in the SLC22A5 gene detected by newborn screening

Authors: Lea Klepač, Klara Miljanić, Danijela Petković Ramadža, Ivo Barić, Tamara Žigman

Source: Liječnički vjesnik, Vol 145, Iss Supp 2, Pp 75-75 (2023)

Subject Terms: carnitine uptake defect, systemic carnitine deficiency, newborn screening, SLC22A5 protein, Medicine (General), R5-920

File Description: electronic resource

Relation: https://hrcak.srce.hr/file/438238; https://doaj.org/toc/0024-3477; https://doaj.org/toc/1849-2177

Access URL: https://doaj.org/article/a1abd407999745beaf35ad799ec4fc38

Pet godina proširenog novorođenačkog probira u Hrvatskoj – što smo postigli?

Authors: Ivo Barić, Danijela Petković Ramadža, Tamara Žigman, Ana Škaričić, Iva Bilandžija Kuš, Ivana Križić, Korana Lipovac, Ksenija Fumić

Source: Liječnički vjesnik, Vol 145, Iss Supp 5, Pp 21-21 (2023)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: https://hrcak.srce.hr/file/445814; https://doaj.org/toc/0024-3477; https://doaj.org/toc/1849-2177

Access URL: https://doaj.org/article/8dae45ca00014090b5b87fc22df98c43

Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention

Authors: Tamara Žigman, Danijela Petković Ramadža, Goran Šimić, Ivo Barić

Source: Frontiers in Neuroscience, Vol 15 (2021)

Subject Terms: autism spectrum disorder, early diagnosis, genetic testing, inborn errors of metabolism, therapeutic principles, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2021.673600/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/bf0c082f4c5448629c30d9400bf9153a