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Items: 1 to 20 of 126

1.

[Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections].

Yagi M, Kusunoki N, Lee T, Awano H, Kodama H, Takeshima Y, Iijima K.

No To Hattatsu. 2014 May;46(3):227-8. Japanese. No abstract available.

PMID:
24902345
2.

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Kim JH, Lee BH, Kim YM, Choi JH, Kim GH, Cheon CK, Yoo HW.

Metab Brain Dis. 2015 Feb;30(1):75-81. doi: 10.1007/s11011-014-9569-5. Epub 2014 Jun 13.

PMID:
24919650
3.

Late-onset treatment in Menkes disease: is there a correlation between genotype and response to therapy?

Olivares JL, Bueno I, Gallati S, Ramos FJ.

Clin Genet. 2006 Apr;69(4):363-6. No abstract available.

PMID:
16630173
4.

In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.

Haddad MR, Macri CJ, Holmes CS, Goldstein DS, Jacobson BE, Centeno JA, Popek EJ, Gahl WA, Kaler SG.

Mol Genet Metab. 2012 Sep;107(1-2):222-8. doi: 10.1016/j.ymgme.2012.05.008. Epub 2012 May 18.

5.

Menkes disease mutations and response to early copper histidine treatment.

Kaler SG.

Nat Genet. 1996 May;13(1):21-2. No abstract available.

PMID:
8673098
6.

Neonatal erythroderma as a first manifestation of Menkes disease.

Galve J, Vicente A, González-Enseñat MA, Pérez-Dueñas B, Cusí V, Møller LB, Julià M, Domínguez A, Ferrando J.

Pediatrics. 2012 Jul;130(1):e239-42. doi: 10.1542/peds.2011-1558. Epub 2012 Jun 18.

PMID:
22711717
7.

A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.

Lin YJ, Ho CS, Hsu CH, Lin JL, Chuang CK, Tsai JD, Chiu NC, Lin HY, Lin SP.

Pediatr Neonatol. 2017 Feb;58(1):89-92. doi: 10.1016/j.pedneo.2014.05.008. Epub 2014 Nov 14.

8.

[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
9.

Clinical utility gene card for: Menkes disease.

Tümer Z, Klomp L.

Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.56. Epub 2011 Apr 13. No abstract available.

10.

Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.

László A, Endreffy E, Tümer Z, Horn N, Szabó J.

Ideggyogy Sz. 2010 Jan 30;63(1-2):48-51.

PMID:
20420124
11.

A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.

Kim BE, Smith K, Petris MJ.

J Med Genet. 2003 Apr;40(4):290-5. No abstract available.

12.

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.

León-García G, Santana A, Villegas-Sepúlveda N, Pérez-González C, Henrríquez-Esquíroz JM, de León-García C, Wong C, Baeza I.

BMC Pediatr. 2012 Sep 19;12:150. doi: 10.1186/1471-2431-12-150.

13.

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. Review.

14.

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.

Costa LS, Pegler SP, Lellis RF, Krebs VL, Robertson S, Morgan T, Honjo RS, Bertola DR, Kim CA.

Rev Assoc Med Bras (1992). 2015 Sep-Oct;61(5):407-10. doi: 10.1590/1806-9282.61.05.407.

15.

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.

Borm B, Møller LB, Hausser I, Emeis M, Baerlocher K, Horn N, Rossi R.

J Pediatr. 2004 Jul;145(1):119-21.

PMID:
15238919
16.

Early copper-histidine treatment for Menkes disease.

Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke JT, Sarkar B.

Nat Genet. 1996 Jan;12(1):11-3. No abstract available.

PMID:
8528242
17.

[Menkes' disease and brain dysfunction].

Aoki T, Yamaguchi Y, Omura I, Watanabe A, Shimizu N.

No To Shinkei. 2001 May;53(5):427-35. Review. Japanese. No abstract available.

PMID:
11424353
18.

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC.

J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21.

19.

Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.

Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS.

J Korean Med Sci. 2011 Jul;26(7):951-3. doi: 10.3346/jkms.2011.26.7.951. Epub 2011 Jun 20.

20.

Menkes disease and infantile epilepsy.

Prasad AN, Levin S, Rupar CA, Prasad C.

Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Review.

PMID:
21924848

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