Yohei Sugiyama 研究室

AI 要約（直近 5 年の研究成果）

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

研究成果（11 件）

• [2025] Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy
  DOI: https://doi.org/10.1186/s13023-025-03848-4
• [2025] Vitamin <scp>B6</scp> Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin <scp>B6</scp> Metabolism by Supplementation and Enzyme Replacement Therapy
  DOI: https://doi.org/10.1002/jimd.70036
• [2025] Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
  DOI: https://doi.org/10.1002/mgg3.70048
• [2024] Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy
  DOI: https://doi.org/10.1038/s41525-024-00429-5
• [2023] Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
  DOI: https://doi.org/10.1038/s41598-023-49161-7
• [2023] Novel ITPA variants identified by whole genome sequencing and RNA sequencing
  DOI: https://doi.org/10.1038/s10038-023-01156-y
• [2022] Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion
  DOI: https://doi.org/10.1016/j.ymgmr.2022.100912
• [2022] A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
  DOI: https://doi.org/10.1186/s13023-022-02230-y
• [2021] Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G &gt; A
  DOI: https://doi.org/10.1016/j.mito.2021.12.005
• [2021] Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
  DOI: https://doi.org/10.1136/archdischild-2021-321633

科研費（0 件）

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