Search Results - "Yilmaz Keskin, Ebru"

MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura by Yilmaz Keskin, Ebru, Yüceer, Ramazan O., Başpinar, Şirin, Okur, Erdoğan, Berdeli, Afig

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Association between Maternal and Infantile Markers of Cobalamin Status During the First Month Post-Delivery by Çoban, Sümeyra, Yılmaz Keskin, Ebru, İğde, Mahir

“…Objective Exclusively breast-fed infants born to vitamin B12 (cobalamin, cbl)-deficient mothers can develop symptoms within a few months following delivery…”
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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study by Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Keskin, Ebru Yilmaz, Perrotta, Silverio, Zaninoni, Anna, Brancaleoni, Valentina, Zanella, Alberto, Giannotta, Juri A., Barcellini, Wilma, Bianchi, Paola

“…Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell…”
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Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies by De Falco, Luigia, Silvestri, Laura, Kannengiesser, Caroline, Morán, Erica, Oudin, Claire, Rausa, Marco, Bruno, Mariasole, Aranda, Jessica, Argiles, Bienvenida, Yenicesu, Idil, Falcon-Rodriguez, Maria, Yilmaz-Keskin, Ebru, Kocak, Ulker, Beaumont, Carole, Camaschella, Clara, Iolascon, Achille, Grandchamp, Bernard, Sanchez, Mayka

“…ABSTRACT Iron‐refractory iron‐deficiency anemia (IRIDA) is a rare autosomal‐recessive disorder characterized by hypochromic microcytic anemia, low transferrin…”
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Life-Threatening Recurrence of Paroxysmal Cold Hemoglobinuria in a Child During Influenza A Infection by Maslak, İbrahim Cemal, Selver, Muhammed Burak, Kaşkaya, Ömer, Yıldırım, Merve Bayrak, Sivrice, Ayşe Çiğdem, Keskin, Mahmut, Sagay, Ebru, Keskin, Ebru Yılmaz

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COVID-19-associated multisystem inflammatory syndrome in children: Experiences of three centres in Turkey by Salman, Hakan, Aslan, Nagehan, Akçam, Mustafa, Arslan, Müjgan, Akkuzu, Emine, Yılmaz Keskin, Ebru, Açarı, Ceyhun, Keskin, Mahmut, Atar, Müge, Köşker, Muhammet, Sinanoğlu, Selçuk, Çetin, Hasan, Akçam, Füsun Zeynep

“…The pathogenesis and clinical manifestations of the multisystem inflammatory syndrome in children (MIS-C) has not yet been fully elucidated and there is no…”
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Disappearance of cerebral cortical atrophy following replacement therapy with vitamin B12 in an infant by Keskin, Ebru Yılmaz

“…Vitamin B12 (cobalamin) deficiency during infancy is seen most commonly in exclusively breast-fed infants born to mothers with inadequate vitamin B12 stores…”
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The role of Matriptase-2 during the early postnatal development in humans by De Falco, Luigia, Bruno, Mariasole, Yilmaz-Keskin, Ebru, Sal, Ertan, Büyükavci, Mustafa, Kaya, Zühre, Girelli, Domenico, Iolascon, Achille

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Association of CYP3A5 Expression and Vincristine Neurotoxicity in Pediatric Malignancies in Turkish Population by Kayilioğlu, Hülya, Kocak, Ulker, Kan Karaer, Derya, Percin, Emriye F, Sal, Ertan, Tekkesin, Funda, Isik, Melek, Oner, Nergiz, Belen, Fatma B, Yilmaz Keskin, Ebru, Okur, Arzu, Albayrak, Meryem, Kaya, Zuhre, Pinarli, Faruk G, Yenicesu, Idil, Karadeniz, Ceyda, Oguz, Aynur, Gursel, Turkiz

“…Vincristine is a widely used chemotherapeutic agent in the treatment of childhood malignancies. Neuropathy is the most common adverse effect. CYP3A4 and CYP3A5…”
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A Rare Cause of Cyanosis Since Birth: Hb M-Iwate by Mutlu, Birgül, Yılmaz Keskin, Ebru, Oliveira, Ana Catarina, Relvas, Luis, Bento, Celeste

“…Cyanosis in an apparently healthy newborn baby may be caused by hemoglobin (Hb) variants associated with the formation of methemoglobin. Such Hb variants are…”
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Retrospective Evaluation Of Children After Stem Cell Transplantation: Single Center Experience by GÜNGÖRER, Vildan, YILMAZ KESKİN, Ebru, FIŞGIN, Tunç

“…AbstractAim: Analysis of the data of children following stem cell transplantation.Materials and Methods: A total of 44 children who received stem cell…”
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Iron-refractory iron deficiency anemia by Yılmaz Keskin, Ebru, Yenicesu, İdil

“…Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over…”
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First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey by Yılmaz Keskin, Ebru, Fettah, Ali, Oliveira, Ana Catarina, Toprak, Şule, Lopes, Andreia, Bento, Celeste

“…Congenital erythrocytosis (CE) or congenital polycythemia represents a rare clinical entity. High oxygen affinity hemoglobin (Hb) variants are a very rare…”
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Sudden Onset of Life-Threatening Methaemoglobinaemia After Intake of Inappropriately Stored Vegetable (Collard Greens) Meal in a 2.5-Year-Old Child by Ozlem Cakmak Yilmaz, Ebru Yilmaz Keskin, Ayhan Yigithan, Mahmut Keskin

“…Acquired methaemoglobinaemia most commonly occurs due to intake of or contact to certain drugs, such as local anesthetics. However, intake of certain…”
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First Report of an SH2D1A Mutation Associated with X-Linked Lymphoproliferative Disease in Turkey by Kesici, Selman, Yılmaz Keskin, Ebru, Chiang, Samuel C.C., Kasapkara, Çiğdem Seher, Sekine, Takuya, Akçaboy, Meltem, Fettah, Ali, Bryceson, Yenan T.

“…To the Editor, X-linked lymphoproliferative disease (XLP) is a rare disorder characterized by an extreme vulnerability to Epstein- Barr virus (EBV) infection,…”
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Neonatal tetanus in Turkey; what has changed in the last decade? by Dikici, Bunyamin, Uzun, Hakan, Yilmaz-Keskin, Ebru, Tas, Taskin, Gunes, Ali, Kocamaz, Halil, Konca, Capan, Tas, Mehmet A

“…Neonatal tetanus (NT) is still considered as one of the major causes of neonatal death in many developing countries. The aim of the present study was to assess…”
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Association of Maternal Vitamin B12 Status With Infant Findings and Neurodevelopment in Vitamin B12-Deficient Breast-fed Babies by Keskin, Ebru Yilmaz, Keskin, Mahmut, Karaibrahimoğlu, Adnan

“…Few studies have examined the association between maternal vitamin B12 status and their breast-fed infants’ findings. The objective of this study was to…”
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Missed Diagnosis of β-Thalassemia Trait in Premarital Screening Due to Accompanying HbA2-Yialousa (HBD: c.82G>T) by Yilmaz Keskin, Ebru, Acar, Öznur, Özbas, Halil

“…The diagnosis of β-thalassemia (β-thal) trait is usually based on an elevated HbA2 fraction (3.5% to 8%). Co-inheritance of a δ-globin variant along with…”
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Association of Maternal Vitamin B12 Status With Infant Findings and Neurodevelopment in Vitamin B12-Deficient Breast-fed Babies by Keskin, Ebru Yilmaz, Keskin, Mahmut, Karaibrahimoğlu, Adnan

“…Few studies have examined the association between maternal vitamin B12 status and their breast-fed infants’ findings. The objective of this study was to…”
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MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura by Yilmaz Keskin, Ebru, Yüceer, Ramazan O., Başpinar, Şirin, Okur, Erdoğan, Berdeli, Afig

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