Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Miroslav Dumic"'
Relative Frequency of Islet Autoimmunity in Children and Adolescents with Autoimmune Thyroid Disease
Autor:
Natasa Rojnic Putarek, Nevena Krnic, Jadranka Knezevic-Cuca, Vesna Kusec, Maja Baretic, Miroslav Dumic
Publikováno v:
JCRPE, Vol 15, Iss 4, Pp 348-355 (2023)
INTRODUCTION: The aim of the present study was to investigate islet autoimmunity and susceptibility to type 1 diabetes (T1D) in children/ adolescents with autoimmune thyroid disease (AITD, and in family members of AITD patients with islet autoimmunit
Externí odkaz:
https://doaj.org/article/c2c7cb8c3ad04ac988b7e48ac835ab17
Autor:
Katja K. Dumic, Claudine Heinrichs, Katrin Koehler, Angela Huebner, Miroslav Dumic, Vesna Kusec, Tina Dusek, Friederike Quitter
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
ObjectiveTriple A syndrome, caused by autosomal recessively inherited mutations in the AAAS gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have
Externí odkaz:
https://doaj.org/article/d9af12447e8d498ba2e856103c2a23e2
Autor:
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene. After a high prevalence of classic 21-OHD CAH in the Romani populati
Externí odkaz:
https://doaj.org/article/e78401ebd2f44716a9af33ec243da054
Autor:
Katrin A. Dohr, Silvija Tokic, Magdalena Gastager-Ehgartner, Tatjana Stojakovic, Miroslav Dumic, Barbara Plecko, Katja K. Dumic
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 6, p 5957 (2023)
X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome. ABCD1 protein, also known as a
Externí odkaz:
https://doaj.org/article/0b6706f3049441c99c8a593b042488f0
Autor:
Katja K. Dumic, Zorana Grubic, Vesna Kusec, Duje Braovac, Kristina Gotovac, Maja Vinkovic, Maja Vucinic, Miroslav Dumic
ObjectiveCongenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by pathological variants in the CYP21A2 gene. After a high prevalence of classic 21-OHD CAH in the Romani populati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b573021d0394e6cde07ff3d667bbd8a
https://doi.org/10.3389/fendo.2023.1170449
https://doi.org/10.3389/fendo.2023.1170449
Autor:
Martin, Zenker, Julia, Mayerle, Markus M, Lerch, Andreas, Tagariello, Klaus, Zerres, Peter R, Durie, Matthias, Beier, Georg, Hülskamp, Celina, Guzman, Helga, Rehder, Frits A, Beemer, Ben, Hamel, Philippe, Vanlieferinghen, Ruth, Gershoni-Baruch, Marta W, Vieira, Miroslav, Dumic, Ron, Auslender, Vera L, Gil-da-Silva-Lopes, Simone, Steinlicht, Manfred, Rauh, Stavit A, Shalev, Christian, Thiel, Arif B, Ekici, Andreas, Winterpacht, Yong Tae, Kwon, Alexander, Varshavsky, André, Reis
Publikováno v:
Nature Genetics, 37, 1345-50
Nature Genetics, 37, 12, pp. 1345-50
Nature Genetics, 37, 12, pp. 1345-50
Contains fulltext : 48537.pdf (Publisher’s version ) (Closed access) Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing a
Autor:
Natasa, Rojnic Putarek, Jasenka, Ille, Anita, Spehar Uroic, Veselin, Skrabic, Gordana, Stipancic, Nevena, Krnic, Ana, Radica, Igor, Marjanac, Srecko, Severinski, Alen, Svigir, Ana, Bogdanic, Miroslav, Dumic
Publikováno v:
Pediatric diabetes. 16(6)
The incidence of type 1 diabetes mellitus (T1DM) among children and adolescents increased during the last 50 yr. The T1DM incidence in Croatia was 8.87/100.000/yr over 1995-2003, with an annual increase of 9%, which placed Croatia among countries wit
triple A syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::916c014ccf984bc97fc8a10ceb706e70
https://www.bib.irb.hr/550266
https://www.bib.irb.hr/550266