Fast Facts for Patients: Pyruvate Kinase Deficiency /
Pyruvate kinase deficiency (PK deficiency) is a rare genetic disease that causes red blood cells to break apart easily (hemolysis). Some patients have no or few symptoms; others have very low numbers of red blood cells (hemolytic anemia) and need treatment with regular blood transfusions. Hemolysis...
保存先:
| 第一著者: | |
|---|---|
| フォーマット: | Livre numérique |
| 言語: | Anglais |
| 出版事項: |
Basel :
S. Karger
2025.
Basel : |
| 版: | 2nd edition. |
| オンライン･アクセス: | Accès Université d'Orléans et IFPM |
| 注記: |
Karger Fast Facts |
| Autres localisations: | Voir dans le Sudoc |
| Edition sous un autre format: | • Fast Facts for Patients: Pyruvate Kinase Deficiency, 9783318072594 |
| LEADER | 01825nam a22002177a 4500 | ||
|---|---|---|---|
| 001 | 1461532 | ||
| 008 | 250606s2025 xx ||| |||| 00| 0 eng d | ||
| 009 | PPN285255177 | ||
| 020 | |a 9783318073942 | ||
| 041 | 0 | |a eng | |
| 100 | 1 | |a Grace, Rachael. | |
| 245 | 1 | 0 | |a Fast Facts for Patients: Pyruvate Kinase Deficiency / |c Rachael Grace. |
| 250 | |a 2nd edition. | ||
| 260 | |a Basel : |b S. Karger. | ||
| 260 | |a Basel : |b S. Karger, |c 2025. | ||
| 500 | |a Karger Fast Facts | ||
| 506 | |a Accès libre pour tout établissements ou utilisateur ayant un compte sur la plateforme de l'éditeur | ||
| 520 | |a Pyruvate kinase deficiency (PK deficiency) is a rare genetic disease that causes red blood cells to break apart easily (hemolysis). Some patients have no or few symptoms; others have very low numbers of red blood cells (hemolytic anemia) and need treatment with regular blood transfusions. Hemolysis occurs in everyone with PK deficiency. It increases the risk of complications that need monitoring, such as gallstones, iron overload, and low bone density. Treatment with mitapivat, which is taken as a tablet, activates pyruvate kinase and reduces anemia and hemolysis in about half of all adults with PK deficiency. Research into other new treatments, including gene therapy, is promising. Common supportive treatments include blood transfusions, removal of the spleen (splenectomy), and medications to remove excess iron from the blood (chelation therapy) | ||
| 776 | 0 | |t Fast Facts for Patients: Pyruvate Kinase Deficiency |z 9783318072594 | |
| 856 | 4 | |5 452349901:889241430 |u https://ezproxy.univ-orleans.fr/login?url=https://karger.com/books/book/6023 |z Accès Université d'Orléans et IFPM | |
| 997 | |0 1461532 |1 Livre numérique |a Ressource numérique |b INSA |b ENSA |c 0/Bibliothèque numérique/ |c 1/Bibliothèque numérique/Autre ressource numérique/ | ||