يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Sayaka Ajihara"', وقت الاستعلام: 0.83s تنقيح النتائج
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    دورية أكاديمية
    Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia

    المؤلفون: Harushi Mori, Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano

    المصدر: BMJ Neurology Open, Vol 4, Iss 2 (2022)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

    وصف الملف: electronic resource

    Relation: https://neurologyopen.bmj.com/content/4/2/e000354.full; https://doaj.org/toc/2632-6140

    URL الوصول: https://doaj.org/article/aa54eaa0d10b4c85af3020678f150c58

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  2. 2
    Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia

    المؤلفون: Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano, Harushi Mori

    المصدر: BMJ Neurology Open. 4:e000354

    مصطلحات موضوعية: Neurology, Neurology (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a098b53b0e7d08ef71eeb66bf83734d4
    https://doi.org/10.1136/bmjno-2022-000354

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  3. 3
    Newborn screening for Fabry disease is useful for early diagnosis of the family members who are affected but are not yet diagnosed

    المؤلفون: Ikuma Musha, Megumi Saito-Tsuruoka, Sayaka Ajihara, Masato Arao, Misato Fujino, Hiroshi Kawana, Narutoshi Yamazaki, Joo-Hyun Seo, Toru Kikuchi, Akira Ohtake, Torayuki Okuyama

    المصدر: Molecular Genetics and Metabolism. 135:S87

    مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2f08c2822b6a985c1bba632e51fc0fe4
    https://doi.org/10.1016/j.ymgme.2021.11.225

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  4. 4
    Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity

    المؤلفون: Toshiyuki Fukao, Ryoji Fujiki, Akira Ohtake, Yusuke Hamada, Satoshi Okada, Ikue Hata, Ryosuke Bo, Nobuo Sakura, Go Tajima, Hideo Sasai, Atsuko Noguchi, Shinsuke Maruyama, Sayaka Ajihara, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Yosuke Shigematsu, Mika Ishige, Masaki Takayanagi, Masao Kobayashi, Osamu Ohara, Reiko Kagawa, Seiji Yamaguchi, Tomotaka Kono, Nobuyuki Ishige, Ikuma Musha, Miyuki Tsumura, Etsuo Naito, Keiichi Hara, Tomonari Awaya, Tomoko Asada

    المصدر: Molecular genetics and metabolism. 122(3)

    مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Gastroenterology, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neonatal Screening, Tandem Mass Spectrometry, Internal medicine, Genetics, medicine, Humans, False Positive Reactions, Carnitine, Allele, Molecular Biology, Beta oxidation, False Negative Reactions, Alleles, Newborn screening, Hypoglycemic encephalopathy, Carnitine O-Palmitoyltransferase, business.industry, Infant, Newborn, Palmitoylcarnitine, food and beverages, Infant, medicine.disease, Hypoglycemia, CPT II Deficiency, 030104 developmental biology, Female, Carnitine palmitoyltransferase II deficiency, Dried Blood Spot Testing, business, 030217 neurology & neurosurgery, Metabolism, Inborn Errors, medicine.drug

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c71ba7bef3413960d516bc737c1b82f
    https://pubmed.ncbi.nlm.nih.gov/28801073

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