Wilson Disease in children
Wilson disease is a rare genetic disorder that affects the body’s ability to process copper. It can lead to the […]
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Wilson disease is a rare genetic disorder that affects the body’s ability to process copper. It can lead to the […]
Wilson Disease in children Read More »
Maple syrup urine disease (MSUD) is a rare inherited metabolic disorder that affects an individual’s ability to break down certain
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Galactosemia is a rare genetic disorder that affects an individual’s ability to metabolize galactose, a sugar found in milk and
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Marfan syndrome is a genetic disorder that affects the connective tissue in the body, leading to a range of symptoms
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Phenylketonuria (PKU) is a rare genetic disorder that affects the body’s ability to metabolize an amino acid called phenylalanine. If
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Huntington’s disease (HD), also known as Huntington’s chorea, is a rare, inherited neurodegenerative disorder that typically presents in adulthood. However,
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Tay-Sachs disease is a rare and severe genetic disorder that primarily affects the nervous system. It is most commonly seen
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Neurofibromatosis (NF) is a genetic disorder that affects the nervous system, primarily causing the growth of tumors on nerves throughout
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Muscular dystrophy (MD) refers to a group of genetic disorders that primarily affect the muscles, leading to muscle weakness, muscle
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Down syndrome, also known as trisomy 21, is a genetic disorder that occurs when there is an extra copy of
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