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Что (кто) такое Bassen-Kornweig syndrome - определение

HUMAN DISEASE

Abetalipoproteinaemia; Abetalipoproteinemia neuropathy; Bassen-Kornzweig Syndrome; Betalipoprotein Deficiency Disease; Congenital betalipoprotein deficiency syndrome; Familial hypobetalipoproteinemia; Microsomal Triglyceride Transfer Protein Deficiency Disease; Bassen-Kornzweig syndrome; Bassen–Kornzweig syndrome

Frank Bassen

AMERICAN PHYSICIAN (1903-2003)

Bassen, Frank

Frank Albert Bassen (14 November 1903 – 17 February 2003)Social Security Death Index. Frank Bassen, 14 November 190317 February 2003.

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

Reye's syndrome

SYNDROME CHARACTERIZED BY ACUTE BRAIN DAMAGE AND LIVER FUNCTION PROBLEMS

Reyes Syndrome; Reye Syndrome; Reye's Syndrome; Reyes syndrome; Reye’s Syndrome; Reye hepatocerebral syndrome; Rye syndrome; Reye s syndrome; Reye's s syndrome; Reye's syndrome; Reye’s syndrome

['re?z, 'r??z]

¦ noun a life-threatening metabolic disorder in young children, of uncertain cause.

Origin

1960s: named after the Australian paediatrician Ralph D. K. Reye.

Frey's syndrome

HUMAN DISEASE

Auriculotemporal syndrome; Frey syndrome

Frey's syndrome (also known as Baillarger's syndrome, Dupuy's syndrome, auriculotemporal syndrome, or Frey-Baillarger syndrome) is a rare neurological disorder resulting from damage to or near the parotid glands responsible for making saliva, and from damage to the auriculotemporal nerve often from surgery.

https://en.wikipedia.org/wiki/Frey's_syndrome

Википедия

Abetalipoproteinemia

Abetalipoproteinemia (also known as: Bassen-Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

It is a rare autosomal recessive disorder.

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