相关实验视频

Updated: Sep 9, 2025

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

40.5K

TPI缺陷:一个案例报告和文献审查

Aaron Williams1, Monika Weisz-Hubshman1, Vittoria Rossi2

  • 1Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States.

Molecular genetics and metabolism
|September 2, 2025
PubMed
概括

三酸盐异构酶缺乏导致严重的溶血性贫血和不寻常的神经肌肉症状. 基因型与现象型的联系表明特定的变异导致致命的结果,需要紧急的治疗研究.

关键词:
血液溶解性贫血神经退化查获情况三酸盐异构酶 (TPI) 缺乏

更多相关视频

Author Spotlight: Studying Spatial Protein Expression Using Agarose Embedded Lung Tissue Sections07:17

Author Spotlight: Studying Spatial Protein Expression Using Agarose Embedded Lung Tissue Sections

Published on: October 6, 2023

6.2K
Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

20

相关概念视频

Pulmonary Tuberculosis IV01:26

Pulmonary Tuberculosis IV

Tuberculosis, more commonly referred to as TB, is an infectious disease stemming from Mycobacterium tuberculosis. While it primarily impacts the lungs, TB can also affect other body areas. Given its severity and global impact, timely and accurate diagnosis is crucial for controlling its spread and improving patient outcomes.
Several diagnostic approaches are used to detect TB. The conventional method is the Tuberculin Skin Test (TST), also known as the Mantoux test. However, this method has...
202
Methods of Documentation III: PIE01:21

Methods of Documentation III: PIE

Problem-intervention-evaluation (PIE) is a systematic approach to documentation used in healthcare settings for clinical decision-making and patient care planning. It is a structured approach to organizing patient data based on problems, interventions, and evaluations. Here's a breakdown of its key features and considerations:
1.5K
Chronic Pancreatitis II: Collaborative Care01:29

Chronic Pancreatitis II: Collaborative Care

The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
128
Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy01:30

Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy

Various diagnostic tests are employed in the diagnostic process for Inflammatory Bowel Disease (IBD), particularly to differentiate between Crohn's disease and ulcerative colitis.
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
413