SCOPUS 정보 검색 플랫폼

Neuropediatrics

Volumn 39, Issue 5, 2008, Pages 268-271

Biotin-responsive basal ganglia disease: Case report and review of the literature

(3) El Hajj, T I a Karam, P E a Mikati, M A a,b

a AMERICAN UNIVERSITY OF BEIRUT (Lebanon)

b DUKE UNIVERSITY MEDICAL CENTER (United States)

Author keywords

Biotin; Biotin responsive basal ganglia disease; Globi pallidi

Indexed keywords

BIOTIN; PHENOBARBITAL;

CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; DISEASE EXACERBATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG DOSE INCREASE; DRUG RESPONSE; ELECTROENCEPHALOGRAM; EXTRAPYRAMIDAL SYNDROME; FEMALE; GLOBUS PALLIDUS; GRAND MAL EPILEPSY; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOPATHY; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHLEBOGRAPHY; PRIORITY JOURNAL; REVIEW; TREATMENT DURATION;

BASAL GANGLIA DISEASES; BIOTIN; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; DOMINANCE, CEREBRAL; DOSE-RESPONSE RELATIONSHIP, DRUG; ELECTROENCEPHALOGRAPHY; FEMALE; GLOBUS PALLIDUS; HUMANS; MAGNETIC RESONANCE IMAGING; NEUROLOGIC EXAMINATION;

EID: 63249102073 PISSN: 0174304X EISSN: None Source Type: Journal
DOI: 10.1055/s-0028-1128152 Document Type: Review

Times cited : (19)

References (11)

1
- 0029593595
- Molecular analysis of holocarboxylase synthetase deficiency: A missense mutation and a single base deletion are predominant in Japanese patients
- Aoki Y, Suzuki Y, Sakamoto O et al. Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. Biochim Biophys Acta 1995; 1272: 168-174
- (1995) Biochim Biophys Acta , vol.1272 , pp. 168-174
- Aoki, Y.¹ Suzuki, Y.² Sakamoto, O.³

2
- 0030055368
- Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency
- Dupuis L, Leon-Del-Rio A, Leclerc D et al. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet 1996; 5: 1011-1016
- (1996) Hum Mol Genet , vol.5 , pp. 1011-1016
- Dupuis, L.¹ Leon-Del-Rio, A.² Leclerc, D.³

3
- 0015190692
- The biotin-dependent enzymes
- Moss J, Lane MD. The biotin-dependent enzymes. Adv Enzymol Relat Areas Mol Biol 1997; 35: 321-442
- (1997) Adv Enzymol Relat Areas Mol Biol , vol.35 , pp. 321-442
- Moss, J.¹ Lane, M.D.²

4
- 0029686097
- Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients
- Narisawa K, Suzuki Y, Aoki Y. Cloning of the holocarboxylase synthetase cDNA and identification of mutations prevalent in Japanese HCS-deficient patients. Nippon Rinsho 1996; 54: 259-267
- (1996) Nippon Rinsho , vol.54 , pp. 259-267
- Narisawa, K.¹ Suzuki, Y.² Aoki, Y.³

5
- 0031817568
- Biotin-responsive basal ganglia disease: A novel entity
- Ozand PT, Gascon GG, Al Essa M et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 1998; 121: 1267-1279
- (1998) Brain , vol.121 , pp. 1267-1279
- Ozand, P.T.¹ Gascon, G.G.² Al Essa, M.³

6
- 0029114718
- Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency
- Pomponio RJ, Reynolds TR, Cole H et al. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 1995; 11: 96-98
- (1995) Nat Genet , vol.11 , pp. 96-98
- Pomponio, R.J.¹ Reynolds, T.R.² Cole, H.³

7
- 0035969512
- SLC19A3 encodes a second thiamine transporter ThTr2
- Rajgopal A, Edmondnson A, Goldman ID et al. SLC19A3 encodes a second thiamine transporter ThTr2. Biochim Biophys Acta 2001; 1537: 175-178
- (2001) Biochim Biophys Acta , vol.1537 , pp. 175-178
- Rajgopal, A.¹ Edmondnson, A.² Goldman, I.D.³

8
- 0025129849
- Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: A benign form of infantile bilateral striatal necrosis
- Roig M, Macaya A, Munell F et al. Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis. J Pediatr 1990; 117: 578-581
- (1990) J Pediatr , vol.117 , pp. 578-581
- Roig, M.¹ Macaya, A.² Munell, F.³

9
- 0037044250
- Familial infantile bilateral striatal necrosis: Clinical features and response to biotin treatment
- Straussberg R, Shorer Z, Weitz R et al. Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. Neurology 2002; 59: 983-989
- (2002) Neurology , vol.59 , pp. 983-989
- Straussberg, R.¹ Shorer, Z.² Weitz, R.³

10
- 0027982429
- Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA
- Suzuki Y, Aoki Y, Ishida Y et al. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. Nat Genet 1994; 8: 122-128
- (1994) Nat Genet , vol.8 , pp. 122-128
- Suzuki, Y.¹ Aoki, Y.² Ishida, Y.³

11
- 20544449737
- Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
- Zeng WQ, Al-Yamani E, Acierno JS Jr et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005; 77: 16-26
- (2005) Am J Hum Genet , vol.77 , pp. 16-26
- Zeng, W.Q.¹ Al-Yamani, E.² Acierno Jr, J.S.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.