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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
Sidney Farber (September 30, 1903 – March 30, 1973) was an American pediatric pathologist.He is regarded as the father of modern chemotherapy for his work using folic acid antagonists to combat leukemia, which led to the development of other chemotherapeutic agents against other malignancies.
It is a rare autosomal dominant disease caused by mutations in the DCN gene. [16] In this bilateral Snowflake, whitish opacities appear throughout the cornea. [17] The stromal lamellae are abnormal and may be separated by amorphous deposits. Moderate to severe vision loss may occur due to corneal opacity.
In 2018, he was awarded a 5-year $3.3 million NIH grant for researching novel pharmaceuticals and diseases associated with altered levels of lipoproteins. [4] In 2002, together with Jamie Shuda he developed an outreach program named BioEYES which allowed students to gain hands-on biology experience by studying live zebrafish in the classroom.
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Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease [1] or Hagberg–Santavuori disease [2] or Santavuori–Haltia disease [2] or Infantile Finnish type neuronal ceroid lipofuscinosis [3] or Balkan disease [3] is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and ...