妊娠悪阻を契機に診断に至った極長鎖アシルCoA脱水素酵素欠損症の1例-Reference-Cited by-同舟云学术

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妊娠悪阻を契機に診断に至った極長鎖アシルCoA脱水素酵素欠損症の1例

Published:2023 Issue:10 Volume:63 Page:656-660
ISSN:0009-918X
Container-title:Rinsho Shinkeigaku
language:en
Short-container-title:Rinsho Shinkeigaku

Author:

Shiraishi Wataru¹,Tateishi Takahisa²,Hayashida Shotaro²,Tajima Go³,Tsumura Miyuki⁴,Isobe Noriko²

Affiliation:

1. Department of Neurology, Kokura Memorial Hospital

2. Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University

3. Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences

4. Division of Neonatal Screening, Research Institute, National Center for Child Health and Development

Publisher

Societas Neurologica Japonica

Subject

Neurology (clinical)

Link

https://www.jstage.jst.go.jp/article/clinicalneurol/63/10/63_cn-001854/_pdf

Reference18 articles.

1. 1) Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 2018;19:93-106.

2. 2) Aoyama T, Uchida Y, Kelley RI, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 1993;191:1369-1372.

3. 3) Laforet P, Acquaviva-Bourdain C, Rigal O, et al. Diagnostic assessment and long-term follow-up of 13 patients with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 2009;19:324-329.

4. 4) 小林弘典．【新ガイドラインの理解を深める　新生児マススクリーニング】VLCAD欠損症．小児科診療 2021;84:267-272.

5. 5) 日本先天代謝異常学会．新生児マススクリーニング対象疾患等診療ガイドライン2015．東京：診断と治療社；2015.

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