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Rare Disease Series #19 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1)
EMPF1 is a rare genetic disorder characterized by delayed psychomotor development and hypotonia.
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- 2021.02.25
Rare Disease Series #18 Long QT syndrome
Long QT syndrome is a rare genetic heart disorder that can cause fast heartbeats, sometimes leading to fainting or seizure.
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- 2021.02.01
My Odyssey #7 - Story of a girl with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
A diagnosis story of a girl diagnosed with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
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- 2021.02.01
Rare Disease Series #17 Infantile cerebellar-retinal degeneration
Infantile cerebellar-retinal degeneration is one of the rare neurodegenerative disorders affecting the brain and eyes.
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- 2021.01.15
Rare Disease Series #16 Gaucher disease
Gaucher disease is one of the most well known rare diseases in the group of lysosomal storage disorders.
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- 2021.01.02
My Odyssey #6 - Story of a girl diagnosed with Infantile cerebellar-retinal degeneration
A diagnosis story of a girl diagnosed with Infantile cerebellar-retinal degeneration
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- 2021.01.01
Rare Disease Series #15 Molybdenum cofactor deficiency type B
Molybdenum cofactor deficiency type B(MOCODB) is a rare metabolic disease derived from the defective MOSC2 gene.
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- 2020.12.11
My Odyssey #5 - Story of a boy with Molybdenum cofactor deficiency type B
A diagnosis story of a boy with Molybdenum cofactor deficiency type B(MOCODB)
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- 2020.12.04