Sunday April 15th, 2018
Glucose-6-Phosphate Dehydrogenase Deficiency
More than 200 mutations that cause glucose-6-phosphate dehydrogenase deficiency have been identified in the G6PD…
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Sunday April 15th, 2018
Factor XI Deficiency
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage…
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Sunday April 15th, 2018
Choroideremia
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first…
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Sunday April 15th, 2018
Alkaptonuria
Alkaptonuria is a rare inborn error of metabolism that results in the accumulation of the…
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Sunday April 15th, 2018
Achromatopsia 3
What is Achromatopsia, CNGB3-Related? Achromatopsia, CNGB3-Related is an autosomal recessive condition that causes partial or…
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Tuesday March 20th, 2018
X-Linked Juvenile Retinoschisis
What is X-Linked Juvenile Retinoschisis? X-linked juvenile retinoschisis is an inherited eye disorder that makes…
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Tuesday March 20th, 2018
X-Linked Congenital Adrenal Hypoplasia
What is X-Linked Congenital Adrenal Hypoplasia? X-linked congenital adrenal hypoplasia (XLCAH), is a disease caused…
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Tuesday March 20th, 2018
X-Linked Adrenoleukodystrophy
What is X-Linked Adrenoleukodystrophy? X-linked adrenoleukodystrophy (X-ALD) is a genetic condition that primarily affects the…
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Tuesday March 20th, 2018
Wilson Disease
What is Wilson Disease? Wilson disease is an inherited disease that causes the body to…
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Tuesday March 20th, 2018
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
What is Very Long Chain Acyl-CoA Dehydrogenase Deficiency? Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency…
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