Keyword Analysis & Research: refsum hastal������


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refsum hastal������0.230.916101331
refsum0.870.94367526
hastal������0.580.48501724

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refsum hastal������0.860.5260568

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  • Refsum Disease - National Institute of Neurological Disorders and …

    nih.gov

    https://www.ninds.nih.gov/health-information/disorders/refsum-disease

    Definition Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy). Due to a genetic abnormality, people with ARD disease lack the enzyme in peroxisomes that break down phytanic acid, a type of fat found in certain foods.

    DA: 32 PA: 94 MOZ Rank: 39

  • Refsum Disease - NORD (National Organization for Rare …

    rarediseases.org

    https://rarediseases.org/rare-diseases/refsum-disease/

    Nov 09, 2011 · Refsum disease is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

    DA: 81 PA: 68 MOZ Rank: 77

  • Refsum disease: MedlinePlus Genetics

    medlineplus.gov

    https://medlineplus.gov/genetics/condition/refsum-disease/

    Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye.

    DA: 77 PA: 26 MOZ Rank: 67

  • Refsum disease - NORD (National Organization for Rare Disorders)

    rarediseases.org

    https://rarediseases.org/gard-rare-disease/refsum-disease/

    Overview Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa.

    DA: 27 PA: 74 MOZ Rank: 74

  • Infantile Refsum Disease | National Institute of Neurological …

    nih.gov

    https://www.ninds.nih.gov/health-information/disorders/infantile-refsum-disease

    Apr 25, 2022 · Definition Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies.

    DA: 3 PA: 67 MOZ Rank: 65

  • Refsum Disease - StatPearls - NCBI Bookshelf

    nih.gov

    https://www.ncbi.nlm.nih.gov/books/NBK560618/

    Aug 30, 2021 · Refsum disease is a rare autosomal recessive disease from the peroxisomal biogenesis spectrum of disorders. Peroxisomes are multiple membrane-bound intracellular organelles involved in catalyzing various functions in cellular metabolism and biosynthesis.

    DA: 93 PA: 82 MOZ Rank: 39

  • Refsum disease - Wikipedia

    wikipedia.org

    https://en.wikipedia.org/wiki/Refsum_disease

    Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid.

    DA: 86 PA: 88 MOZ Rank: 91