- seen on
blood films in abetalipoproteinemia,
liver disease, c****a
acanthocytosis,
McLeod syndrome, and
several inherited neurological and
other disorders...
- C****a-
acanthocytosis (ChAc, also
called c****oacanthocytosis) is a rare
hereditary disease caused by a
mutation in a gene that
directs structural proteins...
-
neurological conditions are ****ociated with
acanthocytosis but are not
considered 'core'
acanthocytosis syndromes. The
commonest are:
Pantothenate kinase-****ociated...
- 0.5 to 1 per 100,000 of the po****tion.
McLeod males have
variable acanthocytosis due to a
defect in the
inner leaflet bilayer of the red
blood cell,...
- back)
Progressive decreased vision Reflex and
proprioception problems Acanthocytosis Retinitis pigmentosa Low
blood cholesterol Abetalipoproteinemia affects...
- in the
small intestine.
Unlike ABL and Ho-HBL, CMRD does not
cause acanthocytosis,
retinitis pigmentosa, or
severe neurological symptoms.
Familial chylomicronemia...
- 2013). "Burr
Cells (Echinocytes)". de
Alarcon PA (Nov 30, 2011). "
Acanthocytosis". Tkachuk,
Douglas C.; Hirschmann, Jan V., eds. (2007). Wintrobe's atlas...
- multi-system
disorder characterized by
hemolytic anemia, myopathy,
acanthocytosis, and c****a. XK is
located on the X
chromosome (cytogenetic band Xp21...
- cyst
syndrome Absent T
lymphocytes Acanthocheilonemiasis Acanthocytosis Acanthocytosis c****a
Acanthosis nigricans Acatalasemia Accessory deep peroneal...
-
Mutations in this gene
cause the
autosomal recessive disorder, c****a
acanthocytosis.
Alternative splicing of this gene
results in
multiple transcript variants...
