通过详细的病史询问、体格检查、实验室及放射学检查，可初步做出低磷血症或低磷性佝偻病的诊断。任何佝偻病，包括营养性佝偻病、维生素D代谢异常所导致的佝偻病以及低磷性佝偻病，病理生理基础都是低磷血症。低磷性佝偻病会出现类似维生素D和（或）钙缺乏所导致的佝偻 ...

The genetic basis of Fanconi anemia (FA) is mysterious and complex, as none of the five genes previously associated with the disorder have homology to genes encoding proteins of known function.

Fanconi anaemia is an inherited genetic condition of bone marrow that causes a predisposition to cancer. Researchers at King Abdullah International Medical Research Center (KAIMRC) have gained ...

我们经常在生活中和社交平台上经常见到白血病患儿，而且很大一部分是儿童患有白血病，不少家长疑惑为什么孩子会患有白血病呢？下面听听专家关于孩子患有白血病的原因介绍，一起来了解吧。 为什么孩子会患有白血病 病毒 ...

50年后，即1891年，西班牙的34个城市中已有50多家瑞士咖啡馆。1845年，弗朗西斯科·马托西(Francisco Matossi)公司、贝尔纳多·范科尼(Bernardo ...

RP-L102, which the firm designed to treat a form of disease caused by FANCA mutations, is already under review with the European Medicines Agency.

Patient enrollment and site activation progressing in Phase 1b PIONEER trial of pociredir in sickle cell disease (SCD) ― ― Ended the third quarter of 2024 with $257.2 million in cash, cash equivalents ...

Analyst Whitney Ijem from Canaccord Genuity maintained a Buy rating on Rocket Pharmaceuticals (RCKT – Research Report) and increased the ...

Rocket Pharmaceuticals is also progressing in its other projects, like the rolling BLA for Fanconi anemia and the Phase 1 enrollment completion in PKP2-arrhythmogenic cardiomyopathy. Furthermore, the ...

YIPF2蛋白还调控了与DNA复制密切相关的MCM家族蛋白及范科尼贫血蛋白（Fanconi anemia）从而影响DNA的复制进程。这些结果说明YIPF2通过对这两个过程的调控促进DNA损伤修复，从而参与基因组稳定性维持。另外，在细胞中过表达YIPF2蛋白能够有效促进DNA损伤修复 ...

High levels of uric acid can result in arthritis as well as kidney stones or kidney dysfunction. In case, your uric acid levels are low, you can get Wilson's disease, a condition that leads to a build ...

In the area of growth control, our recent work is focused on the mTOR pathway that controls multiple aspects of cell growth and homeostasis. Our work on genomic integrity ranges from the Fanconi ...