Understanding Holoprosencephaly Caudal Dysgenesis Understand the rare disorder of holoprosencephaly caudal dysgenesis, a condition characterized […]
Understanding Phenylketonuria (PKU): Causes, Symptoms, and Diagnosis
Overview of Phenylketonuria (PKU) Phenylketonuria (PKU) is an inherited disorder of metabolism causing increased phenylalanine […]
Understanding Pharyngitis: Causes, Diagnosis, and Treatment Options
Introduction Pharyngitis is a common infection causing sore throat, fever, and difficulty swallowing. This article […]
Introduction to Peroxisomal Bifunctional Enzyme Deficiency
D-bifunctional protein deficiency, an autosomal recessive peroxisomal disorder, is caused by mutations in the HSD17B4 […]
Understanding Pheochromocytoma in Neurofibromatosis: Causes, Symptoms, and Management
Introduction to Pheochromocytoma as part of Neurofibromatosis Pheochromocytoma is a rare tumor of the adrenal […]
Overview of Waardenburg Anophthalmia Syndrome
Waardenburg Syndrome is a genetic condition involving pigment distribution issues, causing depigmentation patches․ It affects […]
Understanding Vipoma: Clinical Features, Diagnosis, and Treatment Options
Introduction Vipoma, also known as Vasoactive Intestinal Peptide Tumor, is a rare neuroendocrine tumor characterized […]
Understanding Von Gierke Disease: Causes, Symptoms, and Treatment
Introduction Glycogen storage disease (GSD) affects the body’s glycogen usage and storage, inherited from parents. […]
Understanding Monosomy 9p: Symptoms, Genetic Mutation, Therapies, and Prognosis
Overview of Monosomy 9p Symptoms Individuals with Monosomy 9p may experience developmental delays, intellectual disabilities, […]
Understanding Phenylketonuric Embryopathy and Maternal PKU
Article Plan⁚ Disease ⏤ Phenylketonuric Embryopathy Phenylketonuric Embryopathy, also known as Maternal PKU, is a […]