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Significats de menkes disease en anglès

rus
болезнь менкеса
portuguès
doença de menkes
espanyol
sindrome de menkes
català
síndrome de menkes
Wikidata

Human disease.

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