Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Fatma Tuba, Eminoglu"'
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Engin Demir, Neslihan Doğulu, Ceyda Tuna Kırsaçlıoğlu, Vehap Topçu, Fatma Tuba Eminoglu, Zarife Kuloğlu, Aydan Kansu
Publikováno v:
Molecular Syndromology. 14:136-142
Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on chromosome 7p14, respectively. Trichothiodystrophy type 4 is characterized by n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9aceba7cd9c320b8be833a2e7f2abdb
https://doi.org/10.1159/000526393
https://doi.org/10.1159/000526393
Autor:
Ilknur Surucu Kara, Ummuhan Oncul, Engin Kose, Husnu Mutlu Turan, Ahmet Cevdet Ceylan, Fatma Tuba Eminoglu
Publikováno v:
Mol Syndromol
Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1c52af91e12a108251a1de3e3cbb57d
https://doi.org/10.1159/000520502
https://doi.org/10.1159/000520502
Autor:
Özen Taş, Tugba Kontbay, Ozlem Dogan, Engin Kose, Merih Berberoglu, Zeynep Siklar, Leyla Tumer, Fatma Tuba Eminoglu
Background/Aim There have been no studies to date examining the effect of metformin treatment on vitamin B12 status in children and adolescents. In this prospective study, the effects of metformin on blood vitamin B12, serum methylmalonic acid (MMA),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c806efd4e77db7b9eec40b7ea408c3
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
https://avesis.gazi.edu.tr/publication/details/da0cc501-cd13-46cb-bdda-9d096d911ac0/oai
Autor:
Özen, Taş, Tugba, Kontbay, Ozlem, Dogan, Engin, Kose, Merih, Berberoglu, Zeynep, Siklar, Leyla, Tumer, Fatma Tuba, Eminoglu
Publikováno v:
Klinische Pädiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17df44b8b8da93974e3e3b7bf66ddbc1
https://doi.org/10.1055/a-1766-2824
https://doi.org/10.1055/a-1766-2824
Autor:
Suleyman Aktuna, Duygu Duman, Fatma Tuba Eminoglu, MustafaTurker Duman, Emine Begum Gencer Oncul
Publikováno v:
Balkan medical journal. 39(2)
Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that are defined by a genetic defect predominantly affecting mitochondrial oxidative phosphorylation. Mitochondrial diseases are caused by mutations of genes enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57e7e64017d0b09e6808cb134a299b42
https://pubmed.ncbi.nlm.nih.gov/34928236
https://pubmed.ncbi.nlm.nih.gov/34928236
Autor:
Nilay Hakan, Fatma Tuba Eminoglu, Nurullah Okumus, Nilgun Karadag, Ayşegül Zenciroğlu, Dilek Dilli, Özben Ceylan
Publikováno v:
Tuberculin Skin Test in Children.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c2bb11d08deac5b5b81da31a1501bad
https://doi.org/10.5222/j.child.2016.036
https://doi.org/10.5222/j.child.2016.036
Autor:
Mustafa Aydin, Serdar Ceylaner, Fatma Tuba Eminoglu, Ayşegül Zenciroğlu, Arzu Dursun, Nurullah Okumus, Nazmiye Nilgun Karadag, Nilay Hakan
Publikováno v:
Congenital Anomalies. 52:216-218
Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical faci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f02087478516e8c1ef7733dc09b98213
https://doi.org/10.1111/j.1741-4520.2012.00360.x
https://doi.org/10.1111/j.1741-4520.2012.00360.x
Autor:
Nilay Hakan, Dilek Dilli, Nilgun Karadag, Arzu Dursun, Afşin Kundak, Fatma Tuba Eminoglu, Belma Saygili Karagol, Nurullah Okumus, Ayşegül Zenciroğlu
Publikováno v:
Clinical laboratory. 59(9-10)
Background The aim of this study was to evaluate the features and outcome of classic galactosemia diagnosed in the neonatal period. Methods A retrospective study was carried out on 22 newborns with classic galactosemia who were followed-up in a terti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdec3edb497eacc9f9a10be648ddc505
https://pubmed.ncbi.nlm.nih.gov/24273939
https://pubmed.ncbi.nlm.nih.gov/24273939
Autor:
Nilay, Hakan, Fatma Tuba, Eminoglu, Mustafa, Aydin, Aysegul, Zenciroglu, Nazmiye Nilgun, Karadag, Arzu, Dursun, Nurullah, Okumus, Serdar, Ceylaner
Publikováno v:
Congenital anomalies. 52(4)
Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical faci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d26cc43224ccc04c043da3a3e7bb6baf
https://pubmed.ncbi.nlm.nih.gov/23181498
https://pubmed.ncbi.nlm.nih.gov/23181498