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Items: 1 to 20 of 90

1.

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.

Ogawa E, Kodama H.

J Trace Elem Med Biol. 2012 Jun;26(2-3):102-4. doi: 10.1016/j.jtemb.2012.04.017. Epub 2012 May 8.

PMID:
22575542
2.

Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease.

Bhadhprasit W, Kodama H, Fujisawa C, Hiroki T, Ogawa E.

J Trace Elem Med Biol. 2012 Jun;26(2-3):105-8. doi: 10.1016/j.jtemb.2012.05.002. Epub 2012 Jun 2.

PMID:
22664332
3.

An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.

Tümer Z.

Hum Mutat. 2013 Mar;34(3):417-29. doi: 10.1002/humu.22266. Review.

PMID:
23281160
4.

Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.

Kodama H, Fujisawa C, Bhadhprasit W.

Curr Drug Metab. 2012 Mar;13(3):237-50. Review.

5.

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.

Am J Med Genet. 2001 Mar 15;99(3):217-22.

PMID:
11241493
6.

Copper-histidine therapy for Menkes disease.

Sarkar B, Lingertat-Walsh K, Clarke JT.

J Pediatr. 1993 Nov;123(5):828-30.

PMID:
8229500
7.

Metabolic and molecular bases of Menkes disease and occipital horn syndrome.

Kaler SG.

Pediatr Dev Pathol. 1998 Jan-Feb;1(1):85-98. Review.

PMID:
10463276
8.

Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.

Seidel J, Møller LB, Mentzel HJ, Kauf E, Vogt S, Patzer S, Wollina U, Zintl F, Horn N.

Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL141-8.

PMID:
11936860
9.
10.

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA.

Ann Neurol. 1995 Dec;38(6):921-8.

PMID:
8526465
11.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Dagenais SL, Adam AN, Innis JW, Glover TW.

Am J Hum Genet. 2001 Aug;69(2):420-7. Epub 2001 Jun 26.

12.

Menkes' syndrome: wound healing in a long-term survivor.

al-Qattan MM, Thomson HG.

Ann Plast Surg. 1994 May;32(5):550-2.

PMID:
8060085
13.

PET imaging analysis with 64Cu in disulfiram treatment for aberrant copper biodistribution in Menkes disease mouse model.

Nomura S, Nozaki S, Hamazaki T, Takeda T, Ninomiya E, Kudo S, Hayashinaka E, Wada Y, Hiroki T, Fujisawa C, Kodama H, Shintaku H, Watanabe Y.

J Nucl Med. 2014 May;55(5):845-51. doi: 10.2967/jnumed.113.131797. Epub 2014 Mar 13.

14.

Abnormalities in copper metabolism and disturbances in the synthesis of collagen and elastin.

Kivirikko KI, Peltonen L.

Med Biol. 1982 Apr;60(2):45-8. Review. No abstract available.

PMID:
6124662
15.

ATP7A-Related Copper Transport Disorders.

Kaler SG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 May 9 [updated 2016 Aug 18].

16.

Clinical manifestations and treatment of Menkes disease and its variants.

Kodama H, Murata Y, Kobayashi M.

Pediatr Int. 1999 Aug;41(4):423-9. Review.

PMID:
10453199
17.
18.

[Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe psychomotor retardation and muscle atrophy--a first Japanese case].

Wakai S, Ishikawa Y, Nagaoka M, Minami R, Hayakawa T.

Rinsho Shinkeigaku. 1991 May;31(5):534-8. Japanese.

PMID:
1682078
19.

[Menkes' disease: heterozygosity testing by quantitative real-time PCR and the dilemma of therapeutic support].

Rittinger O, Sander G, Schaller A, Gallati S, Mayr H, Sperl W.

Klin Padiatr. 2005 Sep-Oct;217(5):286-90. German.

PMID:
16167277
20.

The failure of parenteral copper therapy in Menkes Kinky Hair syndrome.

Garnica AD.

Eur J Pediatr. 1984 Jun;142(2):98-102.

PMID:
6468439

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