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相关概念视频

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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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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Nephrons01:10

Nephrons

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The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
2.4K
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

937
Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
937
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

535
Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
535
Synaptic Signaling01:09

Synaptic Signaling

5.5K
Neurons communicate at synapses, or junctions, to excite or inhibit the activity of other neurons or target cells, such as muscles. Synapses may be chemical or electrical.
Most synapses are chemical, meaning an electrical impulse or action potential spurs the release of chemical messengers called neurotransmitters. The neuron sending the signal is called the presynaptic neuron, and the neuron receiving the signal is the postsynaptic neuron.
The presynaptic neuron fires an action potential that...
5.5K
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

541
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
541

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相关实验视频

Updated: Jun 30, 2025

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
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Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

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肯尼迪病是肯尼迪的疾病.

Helen Devine1,2, Matthew Solomons1, Luca Zampedri1

  • 1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Practical neurology
|March 14, 2024
PubMed
概括

一名被误诊为运动神经元疾病的男子经历了重大的生活变化. 基因检测揭示了肯尼迪病,这是一种罕见的疾病,可能比以前认为的更常见.

科学领域:

  • 神经学 神经学
  • 遗传学 是一个遗传学.

背景情况:

  • 肯尼迪病 (脊柱和腹筋肌肉缩) 是一种罕见的遗传性神经退行性疾病.
  • 早期的症状可能是非特异性的,导致诊断挑战.
关键词:
临床神经学 临床神经学这是遗传学.运动神经元疾病 运动神经元疾病神经遗传学 神经遗传学

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