Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Ayfer Sakarya Güneş"'
Publikováno v:
International Journal of Rheumatic Diseases. 25:617-625
Juvenile dermatomyositis (JDM) is the most common subtype of idiopathic inflammatory myopathies in childhood. Gottron's papules, shawl sign, periorbital heliotrope rash, and periungual telengiectasis are characteristic skin findings of the disease. B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc30ab273436243e7222eb8fca3963e
https://doi.org/10.1111/1756-185x.14311
https://doi.org/10.1111/1756-185x.14311
Publikováno v:
Neuropediatrics. 53:140-142
Congenital CD59 deficiency is an autosomal recessive disease characterized by mild-to-moderate chronic intravascular hemolysis, relapsing demyelinating peripheral neuropathies, and recurrent ischemic central nervous system strokes. We report a 2-year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48994ca19e936ff9ce2af9578240e8e1
https://doi.org/10.1055/s-0041-1742160
https://doi.org/10.1055/s-0041-1742160
Autor:
Mesut Güngör, Coskun Yarar, Osman Kipoglu, Gulten Ozturk, Cem Paketçi, Kursat Bora Carman, Betül Kılıç, Murat Özkale, Sema Saltik, Hülya Maraş Genç, Erhan Bayram, Pinar Kahraman Koytak, Gunes Sager, Evrim Karadag Saygi, Uluç Yiş, Mehpare Özkan, Bülent Kara, Gazanfer Ekinci, Nihal Olgaç Dündar, Olcay Ünver, Ugur Isik, Dilsad Turkdogan, Serhat Guler, Hatice Gülhan Sözen, Nur Aydınlı, Elif Yüksel Karatoprak, Mine Çalışkan, Ayfer Sakarya Güneş
Publikováno v:
European Journal of Paediatric Neurology. 30:113-120
Aim We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. Methods The clinical data, laboratory test and, magnetic resonance imaging (M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9976c62c7248003110fb3d24d73423
https://doi.org/10.1016/j.ejpn.2020.10.011
https://doi.org/10.1016/j.ejpn.2020.10.011
Publikováno v:
Journal of Pediatric Neurology. 19:180-182
HINT1 gene mutations cause an axonal neuropathy with some specific findings including presence of neuromyotonia, autosomal recessive inheritance, onset in the first decade, and primary motor involvement. In this case report, we described an 18-year-o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a32ec78db0ae98065b1d20692ffea6
https://doi.org/10.1055/s-0040-1710511
https://doi.org/10.1055/s-0040-1710511
Autor:
Amra Adrovic, Sezgin Sahin, Ozgur Kasapcopur, Ayfer Sakarya Güneş, Kubra Ozturk, Ayse Cefle, Zelal Ekinci, Mesut Güngör, Bülent Kara, Murat Inanc, Ahmet Gül
Publikováno v:
Rheumatology International
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f7c656a29d904adf8cc35e623613d8
https://pubmed.ncbi.nlm.nih.gov/32691099
https://pubmed.ncbi.nlm.nih.gov/32691099
Autor:
Bülent Kara, Ayfer Sakarya Güneş, Yunus Emre Bayrak, Mesut Güngör, Gozde Yesil, Cansu Eğilmez Sarıkaya
Publikováno v:
Seizure. 80:181-182
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad51262107557e3709a2a456c404713
https://doi.org/10.1016/j.seizure.2020.06.022
https://doi.org/10.1016/j.seizure.2020.06.022
Autor:
Vuslat Yilmaz, Emek Uyur Yalçın, Guher Saruhan Direskeneli, Ayfer Sakarya Güneş, Hülya Maraş Genç, Bülent Kara
Publikováno v:
The Turkish Journal of Pediatrics. 61:794
Sakarya Güneş A, Maraş Genç H, Uyur Yalçın E, Yılmaz V, Saruhan Direskeneli G, Kara B. Acute ophthalmoparesis and persistent mydriasis: expanding the clinical spectrum of anti-GQ1b positive cranial neuropathy in a 5.5-year-old girl. Turk J Ped
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc0371194dc75bfc803d45fe0dbf7fcb
https://doi.org/10.24953/turkjped.2019.05.023
https://doi.org/10.24953/turkjped.2019.05.023
Autor:
Adnan Deniz, Hülya Maraş Genç, Bülent Kara, Emek Uyur Yalçın, Yonca Anik, Ayfer Sakarya Güneş
Publikováno v:
Multiple sclerosis and related disorders. 13
Background Schilder's disease is a rare, subacute, or chronic demyelinating disorder that mainly affects children and generally shows a monophasic course. Case Here, we present three boys diagnosed with Schilder's disease, age at onset 10–14 years,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beab2dd239cd0cae00680b44ba478605
https://pubmed.ncbi.nlm.nih.gov/28427702
https://pubmed.ncbi.nlm.nih.gov/28427702
Autor:
Kutluhan Yilmaz, Gülhan Sözen, Bülent Kara, Gunes Sager, Dilsad Turkdogan, Olcay Ünver, Sema Saltik, Elif Yüksel Karatoprak, Büşra Kutlubay, Ayfer Sakarya Güneş, Nilüfer Eldeş Hacıfazlıoğlu
Publikováno v:
Neuromuscular disorders : NMD. 26(11)
The aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a8c93b1107ec87e82ff5f41e9ba0268
https://pubmed.ncbi.nlm.nih.gov/27666774
https://pubmed.ncbi.nlm.nih.gov/27666774
Autor:
Ayfer Sakarya-Güneş, Serap Mülayim, Serdar Ceylaner, Emek Uyur-Yalçın, Uğur Topçu, Bülent Kara, Hülya Maraş Genç
Publikováno v:
Neuromuscular disorders : NMD. 27(1)
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid–base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an addi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::279a198bb5b2735fb9349ed1076f71bf
https://pubmed.ncbi.nlm.nih.gov/27894792
https://pubmed.ncbi.nlm.nih.gov/27894792