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Updated: Jun 15, 2026

Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry
10:06

Porphyrin-Modified Beads for Use as Compensation Controls in Flow Cytometry

Published on: March 24, 2023

ポルフィリアス (Porphyrias) とは

Hervé Puy1, Laurent Gouya, Jean-Charles Deybach

  • 1Assistance Publique Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France.

Lancet (London, England)
|March 16, 2010
PubMed
まとめ

遺伝性ポルフィリアは,ヘム生物合成に影響する代謝障害であり,痛みや皮膚問題などの重症症状を引き起こす. 早期診断と家族スクリーニングは,これらの珍しい遺伝疾患の管理に不可欠です.

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One Minute, Sub-One-Watt Photothermal Tumor Ablation Using Porphysomes, Intrinsic Multifunctional Nanovesicles09:51

One Minute, Sub-One-Watt Photothermal Tumor Ablation Using Porphysomes, Intrinsic Multifunctional Nanovesicles

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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Pleiotropy

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Protein Import into the Peroxisomes

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Peroxisomal Protein Import:
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Disorders of Erythrocytes

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Jaundice

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Pyruvate Oxidation

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