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болезнь менкеса
portuguès
doença de menkes
espanyol
sindrome de menkes
català
síndrome de menkes
Human disease.
md
mk
mnk
copper transport disease
trichopoliodystrophy
kinky hair syndrome
steely hair syndrome
menkes kinky-hair syndrome
kinky hair disease
menkes syndrome
rare disease
català
síndrome de menkes
Sinònims
Examples for "
md
"
md
mk
mnk
copper transport disease
trichopoliodystrophy
Examples for "
md
"
1
Main outcome measure: Symptoms of lifetime
MD
as assessed at personal interview.
2
I love English archetypes: public schoolboy, thirties,
MD
of his father's company.
3
Therefore, MIS may be a safe alternative to open surgery for
MD
.
4
Twenty-three cases had directly comparable areas of PD versus
MD
or WD.
5
Diagnosis of MCI was made according to the
MDS
criteria level II.
1
Strikingly, this amino acid alteration is the same as that seen in the
mk
mouse.
2
The corporation's job was done:
MK
was an economic and popular success.
3
MK
:
My approach is to always find something special, but still approachable.
4
MK
opened offices in Japan and San Francisco to woo foreign companies.
5
Thus, our findings defined a role for LOX-PP in reducing
MK
ploidy.
1
Our investigations revealed a
MNK
-
controlled
mechanism acting on mTORC2-AKT.
2
Herein, a structure-based virtual screening approach was performed to identify potential
MNK
inhibitors from natural products.
3
Compound 23 is the first highly selective dual
MNK
inhibitor targeting dysregulated translation being assessed clinically.
4
The hit compounds display activity in
Mnk
biochemical and cellular assays, including acute myeloid leukemia progenitors.
5
MNK
-
795
would have to be taken only once a day unlike other generic combinations in the market.
1
The neuropathologic abnormalities in three new cases of Menkes'
kinky
hair
disease
are described.
1
Mutations in ATP7A can lead to the usually lethal
Menkes
disease
.
2
Menkes
disease
is a very rare X-linked copper metabolism disorder that results from an ATP7A gene mutation.
3
Rapid diagnosis of
Menkes
disease
and early start of copper therapy is critical for the effectiveness of treatment.
4
With the advent of subcutaneous copper-histidine therapy, the early diagnosis of
Menkes
disease
becomes of utmost importance for patients' prognosis.
5
Menkes
disease
is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency.
6
Molecular analysis of the ATOX1 gene as a possible modulating factor of
Menkes
disease
did not reveal presence of pathogenic mutations.
7
Menkes
disease
is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase.
8
Conclusion:
Menkes
disease
and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and failure to thrive.
rus
болезнь менкеса
portuguès
doença de menkes
síndrome de menkes
espanyol
sindrome de menkes
enfermedad de menkes
síndrome del cabello acerado
sindrome del cabello acerado
síndrome de menkes
català
síndrome de menkes