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Purvaja Jadhao a adăugat un fișier Health
2023-12-15 11:00:31 -

Growth Accelerated by Adoption of Molecular Cytogenetics in Genetic Disorder Diagnosis
Molecular cytogenetics involves techniques like fluorescence in situ hybridization (FISH), flow cytometry, and chromosome microarray analysis (CMA) that are used for the visualization and analysis of genomes. With the help of specific molecular probes, these techniques allow researchers to better identify chromosome abnormalities related to genetic disorders. The growing prevalence of genetic...

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Sneha CMI a adăugat un fișier Alte
2024-04-23 13:53:34 -

Hereditary Orotic Aciduria: An Overview of a Rare Genetic Disorder
Hereditary orotic aciduria is a rare inherited genetic disorder that affects pyrimidine nucleotide synthesis in the body. It is caused by a mutation in the UMPS gene that encodes for the enzyme orotate phosphoribosyltransferase (OPRT). This enzyme plays a vital role in the pyrimidine salvage pathway involved in the biosynthesis of uridine monophosphate (UMP), which is required for the formation...

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Raj Kumar Dhote a adăugat un fișier Health
2024-05-24 12:04:41 -

Spastic Paraplegia 50 (SPG50) Is A Rare Genetic Disorder That Affects The Nervous System
Global Impact of SPG50 SPG50 affects individuals and families worldwide, posing significant challenges: Economic Burden: The cost of care, treatments, and assistive devices can be a financial burden for affected families. Quality of Life: The progressive nature of SPG50 can impact the quality of life for individuals and their families. Support Networks: Access to support networks and patient...

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Dhanashri Patil a adăugat un fișier Health
2024-06-13 06:41:21 -

Advances in Duchenne Muscular Dystrophy Treatment
Causes and Mechanism of Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is caused by the absence of dystrophin, a protein that helps keep muscle cells intact. The defective gene that causes DMD is located on the X chromosome, so it primarily affects boys. Girls can be carriers of the defective...

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Gauri Kanale a adăugat un fișier Alte
2024-04-10 06:50:00 -

Exploring the Landscape of Leigh Syndrome Treatment: Insights and Considerations
Leigh Syndrome Treatment encompasses a diverse array of approaches aimed at managing the symptoms and complications associated with this rare and debilitating neurological disorder. With Leigh Syndrome being a genetic condition characterized by mitochondrial dysfunction, treatment strategies focus on alleviating symptoms, improving quality of life, and addressing the underlying molecular...

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Ashwini Bakhade a adăugat un fișier Alte
2024-10-16 10:03:20 -

Friedreich's Ataxia: Unraveling the Mysteries of an Inherited Neurodegenerative Condition A Fresh Perspective
What is Friedreich's Ataxia? FDRA (FA) is an inherited neurodegenerative disorder that causes progressive loss of coordination and balance. It affects the nerve cells in the brain and spinal cord. The most common early symptoms are problems with walking and balance that slowly worsen over time. FA is typically diagnosed in childhood or early adulthood. Friedreich's Ataxia is an autosomal...

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Pooja Salve a adăugat un fișier Health
2023-09-11 07:09:30 -

Global Alpha 1 Lung Disease Market Is Estimated To Witness High Growth Owing To Increasing Prevalence of the Disease and Advancements in Diagnostic Technologies
The Alpha 1 Lung Disease Market is estimated to be valued at US$4.99 billion in 2023 and is expected to exhibit a CAGR of 18.9% over the forecast period 2023-2030, as highlighted in a new report published by Coherent Market Insights.Market Overview:Alpha 1 Lung Disease is a genetic disorder that causes lung and liver disease. It occurs due to the deficiency of alpha-1 antitrypsin (AAT) protein...

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Raj Kumar Dhote a adăugat un fișier Alte
2024-05-17 12:53:51 -

Navigating U.S. Receiving A Diagnosis Of Urea Cycle Disorders: A Comprehensive Guide
Receiving a diagnosis of Urea Cycle Disorders (UCDs) can be overwhelming, but understanding the treatment options and available resources is essential for effectively managing these rare genetic conditions. Let's explore a comprehensive guide to navigating UCDs treatment in the United States, along with sub-points for each aspect: Specialized Medical Care Finding Specialists: Seek out...

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Raj Kumar Dhote a adăugat un fișier Alte
2024-05-03 12:20:46 -

Navigating U.S. Urea Cycle Disorders Treatment: A Comprehensive Guide
Receiving a diagnosis of Urea Cycle Disorders (UCDs) can be overwhelming, but understanding the treatment options and available resources is essential for effectively managing these rare genetic conditions. Let's explore a comprehensive guide to navigating UCDs treatment in the United States, along with sub-points for each aspect: Specialized Medical Care Finding Specialists: Seek out...

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Raj Kumar Dhote a adăugat un fișier Alte
2024-04-15 10:57:30 -

Perspectives On Global Spastic Paraplegia 50: Challenges And Opportunities
Spastic paraplegia 50 (SPG50) is a rare, inherited neurological disorder that causes progressive weakness and spasticity in the lower limbs. It's caused by mutations in the AP4M1 gene and is a subtype of hereditary spastic paraplegia (HSP). In this article, we explore the Spastic paraplegia 50 (SPG50) is a rare genetic disorder that affects the nervous system, causing progressive weakness and...

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Leena Leena a adăugat un fișier Health
2023-10-26 13:19:13 -

Phenylketonuria Treatment Market: Potential Growth and Future Prospects
SWOT Analysis: Strength: The availability of effective treatment options such as enzyme replacement therapy and gene therapy is a major strength of the Phenylketonuria Treatment market. These treatments help in managing PKU symptoms and improving the quality of life for patients.Weakness: Limited awareness about PKU among healthcare professionals and the general population is a weakness in this...

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Anjali Pawar a adăugat un fișier Alte
2023-07-04 13:15:20 -

Spinal Muscular Atrophy: Exploring the Impact on Motor Function and Quality of Life
Spinal Muscular Atrophy (SMA) is a genetic disorder that profoundly impacts motor function and quality of life. The disease affects the motor neurons responsible for controlling muscle movement, leading to muscle weakness, loss of muscle control, and difficulties with basic functions such as sitting, standing, and walking. SMA presents itself in various types, ranging from severe to milder...

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