Tag: rare diseases
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Trisomy 13 Syndrome
Explore the complexities of Trisomy 13 Syndrome, a rare genetic disorder characterized by the presence of an extra 13th chromosome. This blog post delves into its causes, symptoms, diagnosis, and treatment options, while also addressing common misconceptions and emphasizing the importance of support for affected families. Join us in raising awareness and improving outcomes for…
Symptomatic Porphyria
Symptomatic Porphyria: Definition and Description of Symptomatic Porphyria: Symptomatic Porphyria refers to a group of disorders related to the accumulation of porphyrins or their precursors due to enzymatic deficiencies in the heme production pathway. These conditions can lead to a variety of symptoms affecting the skin and nervous system. The most common types of symptomatic…