Výsledky vyhledávání - "Yılmaz Keskin"

Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy

Autor: Mustafa Kılıç, David Stephen Cram, Ebru Yılmaz Keskin, Gonca Sandal, Deniz Torun, Asburce Olgac, Çiğdem Seher Kasapkara, Johannes Häberle

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 33:1349-1352

Objectives Carbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32ff34aead313f97c0e72d59c5d7da4d
https://doi.org/10.1515/jpem-2020-0117

Zobrazit plný text záznamu

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Publikováno v: Turkish Journal of Hematology
Turkish Journal of Hematology, Vol 37, Iss 3, Pp 145-153 (2020)

Objective Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0df3de9d9ceb05d09504bab5835f685
http://europepmc.org/articles/PMC7463214

Zobrazit plný text záznamu

COVID-19-associated multisystem inflammatory syndrome in children: Experiences of three centres in Turkey

Autor: Hakan Salman, Nagehan Aslan, Mustafa Akçam, Müjgan Arslan, Emine Akkuzu, Ebru Yılmaz Keskin, Ceyhun Açarı, Mahmut Keskin, Müge Atar, Muhammet Köşker, Selçuk Sinanoğlu, Hasan Çetin, Füsun Zeynep Akçam

Publikováno v: Modern Rheumatology

Background The pathogenesis and clinical manifestations of the multisystem inflammatory syndrome in children (MIS-C) has not yet been fully elucidated and there is no clear consensus on its treatment yet. Objectives To evaluate our patients diagnosed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f49077769c68193b3c41021088bd271
https://avesis.gazi.edu.tr/publication/details/c0a64a26-8f12-4b78-a579-04e748a31264/oai

Zobrazit plný text záznamu

Association of Maternal Vitamin B-12 Status With Infant Findings and Neurodevelopment in Vitamin B-12-Deficient Breast-fed Babies

Autor: Adnan Karaibrahimoğlu, Ebru Yılmaz Keskin, Mahmut Keskin

Few studies have examined the association between maternal vitamin B-12 status and their breast-fed infants' findings. The objective of this study was to analyze the association of maternal B-12 status with infant findings including neurodevelopmenta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5169e6fb0e917dc0514ff1deaa2c537f
http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/96686

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association

Autor: Caterina Mele, Marta Alberti, Ebru Yılmaz Keskin, Giuseppe Remuzzi, Elisabetta Valoti, Marina Noris, Elena Bresin, Paola Cuccarolo, Camillo Carrara, Ariela Benigni, Yonca Açikgöz, Matteo Breno

Publikováno v: Nephron. 142:264-270

A 6-month-old boy presented with acute renal failure, thrombocytopenia, and severe non-immune hemolytic anemia. Infection by Shiga-like toxin-producing Escherichia coli and other causes of microangiopathic hemolysis were ruled out, leading to a diagn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f29442dacef57102085d42e9f41b2810
https://doi.org/10.1159/000497823

Zobrazit plný text záznamu

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Autor: Paola Bianchi, Cristina Vercellati, Silverio Perrotta, Wilma Barcellini, Juri Alessandro Giannotta, Anna Zaninoni, Alberto Zanella, Anna Paola Marcello, Elisa Fermo, Ebru Yılmaz Keskin, Valentina Brancaleoni

Publikováno v: Frontiers in Physiology, Vol 12 (2021)
Frontiers in Physiology

Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d459af66838d120d2fe067ad660216
https://www.frontiersin.org/articles/10.3389/fphys.2021.684569/full

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání