Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia
Bayrak, Harun, Yıldız, Yılmaz, Olgaç, Asburçe, Kasapkara, Çiğdem Seher, Küçükcongar, Aynur, Zenciroğlu, Ayşegül, Yüksel, Deniz, Ceylaner, Serdar, Kılıç, Mustafa
Published in Metabolic brain disease (01.08.2021)
Published in Metabolic brain disease (01.08.2021)
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Management of hypersensitivity reactions to enzyme replacement therapy in children with lysosomal storage diseases
Turgay Yagmur, Irem, Unal Uzun, Ozlem, Kucukcongar Yavas, Aynur, Kulhas Celik, Ilknur, Toyran, Muge, Gunduz, Mehmet, Civelek, Ersoy, Dibek Misirlioglu, Emine
Published in Annals of allergy, asthma, & immunology (01.10.2020)
Published in Annals of allergy, asthma, & immunology (01.10.2020)
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Journal Article
Successful sebelipase alfa desensitization in a pediatric patient
Kulhas Celik, Ilknur, Kucukcongar Yavas, Aynur, Unal Uzun, Ozlem, Siyah Bilgin, Betul, Dibek Misirlioglu, Emine, Gunduz, Mehmet
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.02.2019)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.02.2019)
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A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
Mengen, Eda, Küçükçongar Yavaş, Aynur, Uçaktürk, S. Ahmet
Published in Journal of clinical research in pediatric endocrinology (01.06.2020)
Published in Journal of clinical research in pediatric endocrinology (01.06.2020)
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Journal Article
Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation
Küçükçongar Yavaş, Aynur, Engin Erdal, Ayşenur, Bilginer Gürbüz, Berrak, Ünlüsoy Aksu, Aysel, Kasapkara, Çiğdem Seher
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
Published in Journal of Pediatric Endocrinology and Metabolism (27.11.2023)
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Journal Article
Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease
Küçükçongar Yavaş, Aynur, Orhaner, Betül, Genç, Pınar, Kılıç, Nevin, Erdoğan, Hakan, Özdemir, Özlem, Ekici, Arzu
Published in Turkish journal of haematology (02.08.2017)
Published in Turkish journal of haematology (02.08.2017)
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Journal Article
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis
Küçükçongar Yavaş, Aynur, Çavdarlı, Büşra, Ünal Uzun, Özlem, Uncuoğlu, Ayşen, Gündüz, Mehmet
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2020)
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Journal Article
High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease
Koca, Serhat, Tümer, Leyla, Okur, İlyas, Erten, Yasemin, Bakkaloğlu, Sevcan, Biberoğlu, Gürsel, Kasapkara, Çiğdem, Küçükçongar, Aynur, Dalgıç, Buket, Oktar, Suna Özhan, Öner, Yusuf, Atalay, Tuba, Cemri, Mustafa, Çiftçi, Bahattin, Topçu, Burcu, Hasanoğlu, Alev, Ezgü, Fatih
Published in Gene (01.03.2019)
Published in Gene (01.03.2019)
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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features
İnci, Aslı, Cengiz, Başak, Biberoğlu, Gürsel, Okur, İlyas, Arhan, Ebru, Öner, Ali Yusuf, Kasapkara, Çiğdem Seher, Küçükçongar, Aynur, Tümer, Leyla, Ezgu, Fatih
Published in American journal of medical genetics. Part A (01.09.2021)
Published in American journal of medical genetics. Part A (01.09.2021)
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Journal Article
Abbreviation of Desensitization Protocol for Pediatric Patients with Lysosomal Storage Diseases Receiving Enzyme Replacement Therapy
Yörüsün, Gökhan, Yilmaz Topal, Özge, Şengül Emeksiz, Zeynep, Küçükçongar Yavaş, Aynur, Kasapkara, Çiğdem Seher, Dibek Mısırlıoğlu, Emine
Published in International archives of allergy and immunology (17.07.2024)
Published in International archives of allergy and immunology (17.07.2024)
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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
Kroos, Marian, Hoogeveen-Westerveld, Marianne, Michelakakis, Helen, Pomponio, Robert, Van der Ploeg, Ans, Halley, Dicky, Reuser, Arnold, Augoustides-Savvopoulou, Persephone, Ausems, Margreet, Llona, Jose Barcena, Bautista Lorite, Juan, van der Beek, Nadine, Bonafe, Luisa, Cuk, Mario, D'Hooghe, Marc, Engelen, Baziel, Farouk, A., Fumic, K., Garcia-Delgado, E., Herzog, Andreas, Hurst, J., Jones, Simon, Kariminejad, M. H., Küçükçongar, Aynur, Lissens, W., Lund, Allan, Majoor-Krakauer, Danielle, Kumamoto, Shingo, Maravi, E., Marie, Suely, Mengel, Eugen, Mavridou, Irene, Munteis Olivas, E., Najmabadi, H., Okumiya, Toshika, Peric, Stojan, Paschke, Eduard, Plecko, Barbara, Robberecht, Wim, Serdaroglu, Piraye, Shboul, Mohammad, Tansek, Mojca Zerjav, Tarnutzer, A., Stojanovic, Vidosava Rakocevic, Tylki-Szymanska, Anna, Venâncio, Maria, Verhoeven, Kristof
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
Yılmaz, Begüm, Ceylan, Ahmet Cevdet, Gündüz, Mehmet, Ünal Uzun, Özlem, Küçükcongar Yavaş, Aynur, Bilginer Gürbüz, Berrak, Öncül, Ümmühan, Güleç Ceylan, Gülay, Kasapkara, Çiğdem Seher
Published in European journal of pediatrics (01.03.2024)
Published in European journal of pediatrics (01.03.2024)
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Journal Article
Home sleep study characteristics in patients with mucopolysaccharidosis
Kasapkara, Çiğdem Seher, Tümer, Leyla, Aslan, Ayşe Tana, Hasanoğlu, Alev, Ezgü, Fatih Süheyl, Küçükçongar, Aynur, Tunca, Zeynep, Köktürk, Oğuz
Published in Sleep & breathing (01.03.2014)
Published in Sleep & breathing (01.03.2014)
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