Wilson Disease - Causes, Symptoms, and Treatment
Wilson disease is a rare genetically inherited disorder with excessive deposition of copper in the body. Its symptoms and treatment are listed in the article.
05 Oct 2023 . 5 min read
Trifunctional Enzyme Deficiency: An Overview
Trifunctional enzyme deficiency is a condition in which the body cannot break down certain fats. Read this article to know about it.
06 Dec 2022 . 5 min read
Genetics is the study of how certain traits and risk for diseases are passed to children from their parents. Learn about genetic disorders and available genetic testing options.
31 Jul 2023 . 3 min read
Alport Syndrome - Causes, Types, Symptoms, and Management
Alport syndrome affects the filtering process of the kidney, leading to its damage and failure. Let us discuss the causes, symptoms, and management in detail.
28 Dec 2023 . 4 min read
Pseudocholinesterase Deficiency - An Overview
Pseudocholinesterase deficiency is a rare, genetic, or acquired condition that alters the activity of the plasma enzyme pseudocholinesterase.
11 Nov 2022 . 4 min read
Measured Genetic Variants - A Brief Review
Measured genetic variants are the methods of studying variation in genes; for more information, continue reading.
25 Oct 2023 . 4 min read
Charcot-Marie-Tooth disease (CMT) is an inherited neuromuscular disorder that affects the peripheral nerve functions causing physical disability and dysfunction.
02 Aug 2023 . 4 min read
Pediatric Multiple Endocrine Neoplasia - Types, Symptoms, Diagnosis, and Treatment
Multiple endocrine neoplasia (MEN) is a genetic condition resulting in tumor cells of the endocrine organs. The article explains pediatric MEN syndrome.
08 May 2023 . 6 min read
Cartilage-Hair Hypoplasia- A Genetic Abnormality
Cartilage-hair hypoplasia is a genetic disorder that affects the growth of the bone. This article will describe further about this disorder.
28 Dec 2023 . 5 min read
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