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Items: 1 to 20 of 288

1.

[Neonatal onset of Menkes disease: diagnosis interest of cupremia and microscopic examination of the hairs].

Maury A, Payen V, Toutain A, Guiraud P, Saliba E, Labarthe F.

Arch Pediatr. 2007 Oct;14(10):1216-8. Epub 2007 Jul 24. French.

PMID:
17651950
2.

[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
3.

Menkes kinky hair disease: an unusual case.

Jayawant S, Halpin S, Wallace S.

Eur J Paediatr Neurol. 2000;4(3):131-4.

PMID:
10872109
4.

Menkes' disease: case report.

Agertt F, Crippa AC, Lorenzoni PJ, Scola RH, Bruck I, Paola Ld, Silvado CE, Werneck LC.

Arq Neuropsiquiatr. 2007 Mar;65(1):157-60.

5.

[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case].

Reed UC, Rosemberg S, Diament AJ, Scaff M, Canelas HM, Lefèvre AB.

Arq Neuropsiquiatr. 1984 Sep;42(3):262-73. Portuguese.

PMID:
6497717
6.

Lethal neonatal Menkes' disease with severe vasculopathy and fractures.

Jankov RP, Boerkoel CF, Hellmann J, Sirkin WL, Tümer Z, Horn N, Feigenbaum A.

Acta Paediatr. 1998 Dec;87(12):1297-300.

PMID:
9894833
7.

[Menkes disease: experience in copper salts therapy].

Guitet M, Campistol J, Medina M.

Rev Neurol. 1999 Jul 16-31;29(2):127-30. Spanish.

PMID:
10528324
8.

High 64Cu uptake and retention values in two clinically atypical Menkes patients.

Tønnesen T, Garrett C, Gerdes AM.

J Med Genet. 1991 Sep;28(9):615-8.

9.

Menkes kinky hair syndrome: a case report.

Ghosh S, Chaudhuri S.

Dermatol Online J. 2012 Nov 15;18(11):4.

10.

Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy.

Gunn TR, Macfarlane S, Phillips LI.

Clin Pediatr (Phila). 1984 Sep;23(9):514-6.

PMID:
6467787
11.

[West syndrome as an epileptic presentation in Menkes' disease. Two cases report].

Venta-Sobero JA, Porras-Kattz E, Gutiérrez-Moctezuma J.

Rev Neurol. 2004 Jul 16-31;39(2):133-6. Spanish.

12.

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

Tümer Z, Tønnesen T, Böhmann J, Marg W, Horn N.

J Med Genet. 1994 Aug;31(8):615-7.

13.

Menkes' kinky hair disease. I. Comparison of classical and unusual clinical and biochemical features in two patients.

Willemse J, Van den Hamer CJ, Prins HW, Jonker PL.

Brain Dev. 1982;4(2):105-14.

PMID:
7091567
14.

Postmortem Menkes diagnosis from carrier testing of female relatives.

Tønnesen T, Silengo M, Gerdes AM, Hansen JC, Reske-Nielsen E, Franceschini P, Horn N.

Clin Genet. 1987 Dec;32(6):393-7.

PMID:
3436089
15.

An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease.

Haas RH, Robinson A, Evans K, Lascelles PT, Dubowitz V.

Neurology. 1981 Jul;31(7):852-9.

PMID:
7195507
16.

Menkes' disease: report of a case and determination of eumelanin and pheomelanin in hypopigmented hair.

Tomita Y, Kondo Y, Ito S, Hara M, Yoshimura T, Igarashi H, Tagami H.

Dermatology. 1992;185(1):66-8.

PMID:
1638075
17.

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.

18.

[Clinical aspects of Menkes syndrome].

Kolb HJ, Guthoff T.

Monatsschr Kinderheilkd. 1987 Dec;135(12):827-31. German.

PMID:
3437907
19.

Copper-histidine therapy for Menkes disease.

Sarkar B, Lingertat-Walsh K, Clarke JT.

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

PMID:
8229500
20.

Clinical and biochemical aspects of trichopoliodystrophy.

Grover WD, Johnson WC, Henkin RI.

Ann Neurol. 1979 Jan;5(1):65-71.

PMID:
426469

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