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Items: 11

1.

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.

Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W.

Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Review.

2.

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

Pérez-Dueñas B, Serrano M, Rebollo M, Muchart J, Gargallo E, Dupuits C, Artuch R.

Pediatrics. 2013 May;131(5):e1670-5. doi: 10.1542/peds.2012-2988. Epub 2013 Apr 15.

3.

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS.

Brain. 2013 May;136(Pt 5):1534-43. doi: 10.1093/brain/awt054. Epub 2013 Mar 12.

PMID:
23482991
4.

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H.

Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18.

PMID:
23423671
5.

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G.

Neurology. 2013 Jan 15;80(3):261-7. doi: 10.1212/WNL.0b013e31827deb4c. Epub 2012 Dec 26.

PMID:
23269594
6.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N.

BMC Med Genet. 2010 Dec 22;11:171. doi: 10.1186/1471-2350-11-171.

7.

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, Keren B, Lyon-Caen O, Brice A, Sedel F.

Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.

PMID:
20065143
8.

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

Kono S, Miyajima H, Yoshida K, Togawa A, Shirakawa K, Suzuki H.

N Engl J Med. 2009 Apr 23;360(17):1792-4. doi: 10.1056/NEJMc0809100. No abstract available.

9.

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.

Subramanian VS, Marchant JS, Said HM.

Am J Physiol Cell Physiol. 2006 Nov;291(5):C851-9. Epub 2006 Jun 21.

10.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26. Epub 2005 May 3.

11.

Biotin-responsive basal ganglia disease: a novel entity.

Ozand PT, Gascon GG, Al Essa M, Joshi S, Al Jishi E, Bakheet S, Al Watban J, Al-Kawi MZ, Dabbagh O.

Brain. 1998 Jul;121 ( Pt 7):1267-79.

PMID:
9679779

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