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trichopoliodystrophy相关文献:
Menkes disease.
Tümer Z, Møller LB.
Eur J Hum Genet. 2010 May;18(5):511-8. doi: 10.1038/ejhg.2009.187. Epub 2009 Nov 4.
PMID:19888294
[Trichopoliodystrophy or Menkes disease].
Dobrescu O, Larbrisseau A, Dubé LJ, Weber ML.
Can Med Assoc J. 1980 Sep 20;123(6):490-7.
PMID:7002275
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.
Guthrie LM, Soma S, Yuan S, Silva A, Zulkifli M, Snavely TC, Greene HF, Nunez E, Lynch B, De Ville C, Shanbhag V, Lopez FR, Acharya A, Petris MJ, Kim BE, Gohil VM, Sacchettini JC.
Science. 2020 May 8;368(6491):620-625. doi: 10.1126/science.aaz8899.
PMID:32381719
Menkes Disease.
Ashrafi MR, Ghasemi D, Safavi M.
Arch Iran Med. 2021 Dec 1;24(12):919-920. doi: 10.34172/aim.2021.138.
PMID:35014241
A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Vairo FPE, Chwal BC, Perini S, Ferreira MAP, de Freitas Lopes AC, Saute JAM.
Mol Genet Metab. 2019 Jan;126(1):6-13. doi: 10.1016/j.ymgme.2018.12.005. Epub 2018 Dec 11.
PMID:30594472
Menkes's syndrome.
Maddox JL Jr, Odom RB, Goette DK.
Pediatr Dermatol. 1984 Apr;1(4):307-11. doi: 10.1111/j.1525-1470.1984.tb01135.x.
PMID:6494070
Menkes disease.
Kaler SG.
Adv Pediatr. 1994;41:263-304.
PMID:7992686
Menkes disease.
Bankier A.
J Med Genet. 1995 Mar;32(3):213-5. doi: 10.1136/jmg.32.3.213.
PMID:7783172
Menkes disease.
Bertini I, Rosato A.
Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
PMID:17989919
Clinical and biochemical aspects of trichopoliodystrophy.
Grover WD, Johnson WC, Henkin RI.
Ann Neurol. 1979 Jan;5(1):65-71. doi: 10.1002/ana.410050110.
PMID:426469
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