Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Authors: Yohei Masunaga, Gen Nishimura, Koji Takahashi, Tomiyuki Hishiyama, Masatoshi Imamura, Kenichi Kashimada, Machiko Kadoya, Yoshinao Wada, Nobuhiko Okamoto, Daiju Oba, Hirofumi Ohashi, Mitsuru Ikeno, Yuko Sakamoto, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/e26226f888b84c3dbfc3918a055ce68e

A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts

Authors: Ayane Yakabe, Tamaki Ikuse, Natsuki Ito, Hiromichi Yamada, Nobutomo Saito, Yuri Kitamura, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Shinpei Abe, Nao Miyazaki, Ken Hisata, Hiromichi Shoji, Tomoyuki Nakazawa, Hidetaka Eguchi, Toshiaki Shimizu

Source: Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/708573073f184596934086a2ed050635

Acute encephalopathy in children with tuberous sclerosis complex

Authors: Shingo Numoto, Hirokazu Kurahashi, Atsushi Sato, Masaya Kubota, Takashi Shiihara, Tohru Okanishi, Ryuta Tanaka, Ichiro Kuki, Tetsuhiro Fukuyama, Mitsuru Kashiwagi, Mitsuru Ikeno, Kazuo Kubota, Manami Akasaka, Masakazu Mimaki, Akihisa Okumura

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Clinical neurology history, Prognosis, Status epilepticus, Infantile spasms, MRI, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/1355176fa3e24f4c807cd92d8458cae2

A Case of Neonate with Split Cord Malformation Presenting with Hypoplasia of the Left Lower Extremity

Authors: Ryosuke Tanimoto, Tamaki Ikuse, Natsuki Ito, Hiroyuki Sato, Yuriha Kasai, Hiromichi Yamada, Nobutomo Saito, Tomohiro Iwasaki, Mitsuru Ikeno, Hiroki Suganuma, Ken Hisata, Hiromichi Shoji, Takahiro Kudo, Koichiro Sakamoto, Kazuaki Shimoji, Akihide Kondo, Toshiaki Shimizu

Source: Medicina, Vol 59, Iss 4, p 726 (2023)

Subject Terms: split cord malformation, leg hypoplasia, leg atrophy, lumbosacral abnormality, lower extremity, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/1648-9144/59/4/726; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

Access URL: https://doaj.org/article/0bb7d323f93d4fa89e8531196d19f243

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