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Akademický článek

ALLOANTIBODY-LIKE MIMICKING ANTI-c WITH BLOOD TRANSFUSION HISTORY AND AUTOANTIBODY-LIKE MIMICKING ANTI-E WITHOUT IMMUNE STIMULATION: TWO CASE REPORTS. (English)

Autor: Mutsumi Kita, Shuji Onishi, Manabu Yamaoka, Momoka Kitahata, Maki Osawa, Yukari Yoshida, Misao Abe, Atsushi Satake, Tomoki Ito

Publikováno v: Japanese Journal of Transfusion & Cell Therapy / Nihon Yuketsu Saibo Chiryo Gakkaishi; 2023, Vol. 69 Issue 6, p653-657, 5p

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Steroid Sulfatase Deficiency With Bilateral Periventricular Nodular Heterotopia

Autor: Nobuo Sakura, Hiroshi Ozawa, Toshiro Nagai, Maki Osawa

Publikováno v: Pediatric Neurology. 34:239-241

This report presents a case of steroid sulfatase deficiency with bilateral periventricular nodular heterotopia. A 13-year-old male was diagnosed as having steroid sulfatase deficiency because steroid sulfatase activity was not detected in his leukocy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4841ac831c0e1719c7f84b9f42ee102a
https://doi.org/10.1016/j.pediatrneurol.2005.08.015

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Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

Autor: Yuko Shinozaki, Eiji Nakagawa, Hirofumi Komaki, Masayuki Sasaki, Kenji Sugai, Yuichi Goto, Hiroshi Sakuma, Maki Osawa

Publikováno v: Braindevelopment. 31(6)

Mutations in the Aristaless-related homeobox (ARX) gene are associated with pleiotropic phenotypes including infantile spasms, mental retardation and dystonia. However, relatively consistent genotype-phenotype correlations have been emphasized in pri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa17cfb365fe86b467e1316a4632d8c4
https://pubmed.ncbi.nlm.nih.gov/18823727

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[A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction]

Autor: Hiroto, Akaike, Maki, Osawa, Kenji, Sugai, Eiji, Nakagawa, Hirofumi, Komaki, Ikuko, Suzuki, Masayuki, Sasaki

Publikováno v: No to hattatsu = Brain and development. 39(6)

We describe a patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS). This patient showed central hypotonia, mental retardation, disappearance of language, multiple facial anomalies, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::537a158be2e3601e8b540b25cb45ae93
https://pubmed.ncbi.nlm.nih.gov/18027568

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