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Items: 1 to 20 of 25

1.

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE.

Am J Hum Genet. 2002 May;70(5):1349-56. Epub 2002 Mar 15.

2.

X-linked creatine transporter defect: an overview.

Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C.

J Inherit Metab Dis. 2003;26(2-3):309-18. Review.

PMID:
12889669
3.

Creatine and creatine deficiency syndromes: biochemical and clinical aspects.

Nasrallah F, Feki M, Kaabachi N.

Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review.

PMID:
20159424
4.

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Verhoeven NM, Salomons GS, Jakobs C.

Clin Chim Acta. 2005 Nov;361(1-2):1-9. Review.

PMID:
16169544
5.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

Stockler S, Schutz PW, Salomons GS.

Subcell Biochem. 2007;46:149-66. Review.

PMID:
18652076
6.

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome.

Forrester S, Kovach MJ, Reynolds NM, Urban R, Kimonis V.

Am J Med Genet. 2001 Jan 1;98(1):92-100. Review.

PMID:
11426460
7.

A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.

Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S.

Arch Neurol. 2001 Jun;58(6):1004-7. Review.

PMID:
11405816
8.

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW.

Pediatr Neurol. 2010 May;42(5):369-71. doi: 10.1016/j.pediatrneurol.2010.01.009. Review.

PMID:
20399395
9.

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD.

Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29. Review.

PMID:
24953403
10.

[Sex-linked mental retardation].

Hamel BC, Poppelaars FA.

Ned Tijdschr Geneeskd. 2000 Sep 2;144(36):1713-6. Review. Dutch. Erratum in: Ned Tijdschr Geneeskd 2000 Sep 23;144(39):1896.

PMID:
10992892
11.

X-linked mental retardation.

Neri G, Chiurazzi P.

Adv Genet. 1999;41:55-94. Review. No abstract available.

PMID:
10494617
12.

[X-linked mental retardation syndromes].

Kurosawa K.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):123-30. Review. Japanese. No abstract available.

PMID:
11057166
13.

Creatine transporter deficiency in two adult patients with static encephalopathy.

Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. Review.

PMID:
19319661
14.

[X-linked mental retardation].

Kurosawa K.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):826-9. Review. Japanese. No abstract available.

PMID:
11529044
15.

In search of the MRX genes.

Toniolo D.

Am J Med Genet. 2000 Fall;97(3):221-7. Review.

PMID:
11449491
16.

[Danon disease].

Nishino I.

Ryoikibetsu Shokogun Shirizu. 2001;(36):225-9. Review. Japanese. No abstract available.

PMID:
11596375
17.

[Coffin-Lowry syndrome].

Ishii T.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):163-5. Review. Japanese. No abstract available.

PMID:
11057180
18.

[X-linked hydrocephalus syndrome].

Okamoto N.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):47-8. Review. Japanese. No abstract available.

PMID:
11057138
19.

MRX review.

Chelly J.

Am J Med Genet. 2000 Oct 23;94(5):364-6. Review. No abstract available.

PMID:
11050618
20.

Syndromic XLMR genes (MRXS): update 2000.

Hamel BC, Chiurazzi P, Lubs HA.

Am J Med Genet. 2000 Oct 23;94(5):361-3. Review. No abstract available.

PMID:
11050617
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