Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 97

1.

Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

Schänzer A, Döring B, Ondrouschek M, Goos S, Garvalov BK, Geyer J, Acker T, Neubauer B, Hahn A.

Brain Pathol. 2014 Apr;24(3):270-9. doi: 10.1111/bpa.12117. Epub 2014 Jan 29.

PMID:
24372704
2.

Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.

Algahtani H, Ghamdi S, Shirah B, Alharbi B, Algahtani R, Bazaid A.

Neurol Res. 2017 Feb;39(2):117-125. doi: 10.1080/01616412.2016.1263176. Epub 2016 Dec 1.

PMID:
27905264
3.

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C.

PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016.

4.

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.

5.

Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.

Whitford W, Hawkins I, Glamuzina E, Wilson F, Marshall A, Ashton F, Love DR, Taylor J, Hill R, Lehnert K, Snell RG, Jacobsen JC.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001909. doi: 10.1101/mcs.a001909. Print 2017 Nov.

6.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Álvarez E, Muchart J, Martorell L, Artuch R, Obeso JA, Pérez-Dueñas B.

Mov Disord. 2012 Sep 1;27(10):1295-8. doi: 10.1002/mds.25008. Epub 2012 Jul 6.

PMID:
22777947
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.

Treatable Leigh-like encephalopathy presenting in adolescence.

Fassone E, Wedatilake Y, DeVile CJ, Chong WK, Carr LJ, Rahman S.

BMJ Case Rep. 2013 Oct 7;2013:200838. doi: 10.1136/bcr-2013-200838.

9.

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.

Sremba LJ, Chang RC, Elbalalesy NM, Cambray-Forker EJ, Abdenur JE.

Mol Genet Metab Rep. 2014 Aug 28;1:368-372. eCollection 2014.

10.

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.

12.

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.

13.

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

Ygberg S, Naess K, Eriksson M, Stranneheim H, Lesko N, Barbaro M, Wibom R, Wang C, Wedell A, Wickström R.

Eur J Paediatr Neurol. 2016 May;20(3):457-61. doi: 10.1016/j.ejpn.2016.01.009. Epub 2016 Feb 4.

PMID:
26975589
14.

Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F.

J Hum Genet. 2015 Jul;60(7):381-5. doi: 10.1038/jhg.2015.35. Epub 2015 Apr 16.

PMID:
25876998
15.

Biotin-Thiamine-Responsive Basal Ganglia Disease.

Tabarki B, Al-Hashem A, Alfadhel M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Nov 21.

16.

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.

Pronicki M, Piekutowska-Abramczuk D, Jurkiewicz E, Rokicki D, Ciara E, Trubicka J, Iwanicka-Pronicka K, Pajdowska M, Migdał M, Grajkowska WA.

Folia Neuropathol. 2017;55(2):146-153. doi: 10.5114/fn.2017.68581.

17.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B.

Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10.

PMID:
26657515
18.

[Familial Wernicke's-like encephalopathy].

Miyajima H, Kono S.

Rinsho Shinkeigaku. 2010 Nov;50(11):855-7. Japanese.

PMID:
21921471
19.

A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?

Aljabri MF, Kamal NM, Arif M, AlQaedi AM, Santali EY.

Medicine (Baltimore). 2016 Oct;95(40):e4819.

20.

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.

Supplemental Content

Support Center