Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Neslihan Onenli Mungan"'
Autor:
Abdurrahman Akgun, Gulden Gokcay, Neslihan Onenli Mungan, Hatice Serap Sivri, Hasan Tezer, Cigdem Aktuglu Zeybek, Fatih Ezgu
Publikováno v:
Frontiers in Public Health, Vol 11 (2023)
This expert-opinion-based document was prepared by a group of specialists in pediatric inherited metabolic diseases and infectious diseases including administrative board members of Turkish Society for Pediatric Nutrition and Metabolism to provide gu
Externí odkaz:
https://doaj.org/article/1910dd11ee834a16b3614b54a8b92b29
Autor:
Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Sanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Caregivers fa
Externí odkaz:
https://doaj.org/article/0bd369f66b904f0d9b114842d2265c5f
Autor:
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 156-160 (2015)
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas. Untreated cases die early from cardiac complications
Externí odkaz:
https://doaj.org/article/99f367fd44c64790865f02d546307388
Autor:
Hacer Yapicioglu Yildizdas, Dincer Yildizdas, Ferda Ozlu, Kurthan Mert, Neslihan Onenli Mungan
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 40, Iss 1, Pp 161-166 (2015)
In newborns, hyperammonemia leads to encephalopathy which is usually characterized by vomiting, hypotonia, lethargy, seizures and coma. Continuous venovenous hemodiafiltration (CVVHDF) is a modality choice to treat acute decompensation in hyperammone
Externí odkaz:
https://doaj.org/article/f15b660631ae4d7795f1841a4f1ddd90
Evaluation of Two Different Pamidronate Treatment Protocols in Children with Osteogenesis Imperfecta
Autor:
Neslihan Onenli Mungan, Fatih Gurbuz, Eda Mengen, Ozden Ozgur, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 39, Iss 3, Pp 532-539 (2014)
Purpose: Osteogenesis imperfecta is an inherited disorder of connective tissue. Children with this condition suffer from recurrent fractures, deformities, osteoporosis and pain. Over the recent years, pamidronate became the standard treatment choice.
Externí odkaz:
https://doaj.org/article/df3ea514717a4500959eb51171000297
Autor:
Neslihan Onenli Mungan, Fatih Gurbuz, Eda Mengen, Ozden Ozgur, Ali Kemal Topaloglu, Bilgin Yuksel
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 38, Iss 4, Pp 667-674 (2013)
Purpose: The main objective of this study was to compare the treatments of calcitonin and pamidronate by clinical, biochemical, and radiological findings in children with osteogenesis imperfecta and evaluate the efficiency of pamidronate treatment. P
Externí odkaz:
https://doaj.org/article/11cdf5e8baca4dc09e9809ac6e7f1700
Publikováno v:
Çukurova Üniversitesi Tıp Fakültesi Dergisi, Vol 38, Iss 4, Pp 809-812 (2013)
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2. More than 200 mutati
Externí odkaz:
https://doaj.org/article/4fef9a765b4a4c1a8b1c8199bd515a17
Autor:
Faruk Incecik, Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak
Publikováno v:
Annals of Indian Academy of Neurology, Vol 16, Iss 4, Pp 720-722 (2013)
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translationa
Externí odkaz:
https://doaj.org/article/ad375b4e9e8c4d2b837f2493c6656eba
Autor:
Neslihan Onenli Mungan, Mahmut Coker, Gonca Kilic Yildirim, Ozlem Unal Uzun, Melike Ersoy, Ayse Cigdem Aktuglu Zeybek, Seda Gunes, Nur Arslan, Leyla Tümer, Mustafa Kilic, Tuba Eminoglu, Mehmet Gunduz, Mehmet Keskin, Deniz Kor, Ebru Canda, Derya Bulut, Sema Kalkan Ucar
Publikováno v:
Molecular Genetics and Metabolism. 138:107252
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12c9a79ed6d53f6e0e6d1004817deb84
https://doi.org/10.1016/j.ymgme.2022.107252
https://doi.org/10.1016/j.ymgme.2022.107252
Autor:
Sebile Kılavuz, Murat Basaranoglu, Serdar Epcacan, Derya Bako, Arife Ozer, Yasemin Nuran Donmez, Emine Ipek Ceylan, Ajlan Tukun, Serdar Ceylaner, Hadi Geylani, Halise Neslihan Onenli Mungan
Publikováno v:
Metabolic brain disease. 37(4)
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63bc9d576e437561e897c78c03b6f6ca
https://pubmed.ncbi.nlm.nih.gov/35254599
https://pubmed.ncbi.nlm.nih.gov/35254599