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Inherited Disease
Abdomen
Aesthetic
Allergies and Immunology
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Biotechnology
Blood
Genetic disorders
Understanding Phenylketonuria (PKU)
Phenylketonuria (PKU) is a rare inherited metabolic disorder that causes a dangerous buildup of the amino acid phenylalanine in the body. It results from a deficiency or absence of...
Dr. Ayesha Maqsood
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Congenital Disorders
Kleefstra Syndrome: Causes, Symptoms, and Treatment
Dr. Moeez Nadeem
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Kleefstra Syndrome, also known as 9q subtelomeric deletion syndrome, 9q34.3 deletion syndrome, or EHMT1-related neurodevelopmental syndrome, is a...
Congenital Disorders
Carpenter Syndrome: Causes, Symptoms, and Treatment Options
Dr. Moeez Nadeem
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Carpenter Syndrome, also known as acrocephalopolysyndactylyl type Ⅱ, is a rare genetic disorder that causes multiple deformities in...
Genetic disorders
Myotonia Congenita: Symptoms And Treatment
Abdul Qadir
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Myotonia Congenita (MC) is a rare inherited neuromuscular disorder in which the muscles are not able to relax...
Children
Zellweger Syndrome: Shedding Light on the Rare Genetic Disorder
Dr. Asmaa Qamar
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What is Zellweger Syndrome? Zellweger syndrome is a rare genetic disorder that disrupts cellular function and usually appears soon...
Fabry Disease: Insights into a Rare Condition
Genetic disorders
Dr. Ayesha Maqsood
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June 5, 2024
Fabry disease is a type of lysosomal storage disease. It is a rare condition in which the body does not make enough of an...
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Biliary Sludge: Symptoms, Causes, Diagnosis & Treatment
Dr. Zoobia Nadeem
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May 11, 2025
Galactosemia: Symptoms, Causes, and Treatments of this Rare Illness
Children
Hypotrichosis: What It Is, Causes, Symptoms, Treatment
Congenital Disorders
Trichodynia: Understanding Why Your Scalp Hurts
Neurology
Ileus: Causes, Symptoms, and Treatment Explained
Abdomen
Penicillin Allergy: Symptoms, Risks, and Alternatives
Allergies and Immunology
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