Dr. Bhanushali Sonali Suresh Tara
16 May 2024 - 2 min read
Enzyme Deficiency - An Overview
Enzyme deficiencies disrupt vital metabolic processes, leading to a range of debilitating symptoms and conditions.
02 Jan 2024 . 4 min read
Acatalasemia - A Journey to Discovering Rare Diseases
Acatalasemia is a rare autosomal recessive disorder that is poorly understood and is caused due to a deficiency of the enzyme: catalase.
19 May 2023 . 5 min read
TRNT1 enzyme deficiency can lead to a group of disorders known as SIFD-sideroblastic anemia, immunodeficiency, fevers, and developmental disorders.
04 Apr 2024 . 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
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
Gamma-Glutamylcysteine Synthetase Deficiency
γ-glutamylcysteine synthetase deficiency is a genetic disorder that causes anemia. Refer to this article for a detailed description.
20 Oct 2023 . 4 min read
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