-
Homocystinuria (HCU) is an
inherited disorder of the
metabolism of the
amino acid
methionine due to a
deficiency of
cystathionine beta
synthase or methionine...
- disorder.[citation needed] The
exception is
methylmalonic acidemia and
homocystinuria, cblX type due to
variants in HCFC1 gene,
which is
inherited in an X-linked...
- effects. It can also be ****ociated with lupus,
polycythemia vera and
homocystinuria.
Malar flush is a plum-red
discolouration of the high ch****s. Mitral...
- The CBS gene is the most
common locus for
mutations ****ociated with
homocystinuria. The
systematic name of this
enzyme class is L-serine hydro-lyase (adding...
-
Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, and
homocystinuria. It is also seen in
congenital contractural arachnodactyly,
which is...
- an
abnormal tendency to bleed, and if some
rarer processes such as
homocystinuria might be involved. For
hemorrhagic stroke, a CT or MRI scan with intravascular...
-
therapy for
inherited metabolic disorders, such as
phenylketonuria and
homocystinuria, and can also be used to
treat kidney or
liver disease. Low protein...
- the risk of
thrombus formation.
Homocystinuria is the
second most
common cause of
heritable ectopia lentis.
Homocystinuria is an
autosomal recessive metabolic...
- ****ociated with CblE type of
homocystinuria. (MTRR):c.1953-6_1953-2del5 –
Novel mutation ****ociated with CblE type of
homocystinuria.
Unstable mRNA arising...
-
Methylmalonic aciduria and
homocystinuria type C
protein (MMACHC) is a
protein that in
humans is
encoded by the
MMACHC gene. The C-terminal
region of the...
