相关实验视频

Updated: May 23, 2025

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
09:29

Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice

Published on: June 11, 2020

3.3K

由于D-双功能蛋白缺乏症而导致的新生儿发作和下垂

Sohier Yahia1, Dina Ghozzy1, Yahya Wahba1

  • 1Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Indian journal of pediatrics
|May 22, 2025
PubMed
概括

中链甘油三酸 (MCT) 配方在治疗D-双功能蛋白缺乏症,一种罕见的遗传性多氧体疾病方面表现有前途. 这种干预有助于控制发作,并改善婴儿病例的症状.

关键词:
这就是HSD17B4的原因.过氧体性疾病 过氧体性疾病发作 在发作.

更多相关视频

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

24.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

相关概念视频

Inborn Errors of Metabolism01:20

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...
121
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
646
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
297
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
2.3K
Arteries of the Lower Limbs01:24

Arteries of the Lower Limbs

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
174
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K