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Volumn 137, Issue 9, 2014, Pages

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; MEMBRANE PROTEIN; SLC19A3 PROTEIN; THIAMINE; UNCLASSIFIED DRUG;

EID: 84906705372     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu129     Document Type: Letter
Times cited : (5)

References (12)
  • 1
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    • 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, et al. 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. Orphanet J Rare Dis 2013; 8: 83.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 83
    • Alfadhel, M.1    Almuntashri, M.2    Jadah, R.H.3    Bashiri, F.A.4    Al Rifai, M.T.5    Al Shalaan, H.6
  • 2
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    • Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations
    • Debs R, Depienne C, Rastetter A, Bellanger A, Degos B, Galanaud D, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010; 67: 126-30.
    • (2010) Arch Neurol , vol.67 , pp. 126-130
    • Debs, R.1    Depienne, C.2    Rastetter, A.3    Bellanger, A.4    Degos, B.5    Galanaud, D.6
  • 3
    • 84907777585 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease: A treatable differential diagnosis of leigh syndrome
    • doi:10.1007/8904-2013-271
    • Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, et al. Biotin-responsive basal ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep 2013; doi:10.1007/8904-2013-271.
    • JIMD Rep 2013
    • Distelmaier, F.1    Huppke, P.2    Pieperhoff, P.3    Amunts, K.4    Schaper, J.5    Morava, E.6
  • 5
    • 84874828464 scopus 로고    scopus 로고
    • 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, et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain 2013; 136 (Pt 3): 882-90.
    • (2013) Brain , vol.136 , Issue.PART. 3 , pp. 882-890
    • Gerards, M.1    Kamps, R.2    Van Oevelen, J.3    Boesten, I.4    Jongen, E.5    De Koning, B.6
  • 6
    • 84906707890 scopus 로고    scopus 로고
    • Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease
    • doi:10.1093/brain/awu128
    • Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, et al. Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain 2014; doi:10.1093/brain/awu128.
    • (2014) Brain
    • Haack, T.B.1    Klee, D.2    Strom, T.M.3    Mayatepek, E.4    Meitinger, T.5    Prokisch, H.6
  • 7
    • 84877259205 scopus 로고    scopus 로고
    • 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, et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013; 136 (Pt 5): 1534-43.
    • (2013) Brain , vol.136 , Issue.PART. 5 , pp. 1534-1543
    • Kevelam, S.H.1    Bugiani, M.2    Salomons, G.S.3    Feigenbaum, A.4    Blaser, S.5    Prasad, C.6
  • 10
    • 84873679672 scopus 로고    scopus 로고
    • 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, et al. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013; 80: 261-7.
    • (2013) Neurology , vol.80 , pp. 261-267
    • Tabarki, B.1    Al-Shafi, S.2    Al-Shahwan, S.3    Azmat, Z.4    Al-Hashem, A.5    Al-Adwani, N.6
  • 11
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    • 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, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC Med Genet 2010; 11: 171.
    • (2010) BMC Med Genet , vol.11 , pp. 171
    • Yamada, K.1    Miura, K.2    Hara, K.3    Suzuki, M.4    Nakanishi, K.5    Kumagai, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.