SCOPUS 정보 검색 플랫폼

Volumn 22, Issue , 2015, Pages 11-16

Asparagine synthetase deficiency: New inborn errors of metabolism

Author keywords

ASD; Asparagine; Asparagine synthetase deficiency; Inborn errors of metabolism; Neurometabolic

Indexed keywords

EID: 84948709679 PISSN: 21928304 EISSN: 21928312 Source Type: Book Series
DOI: 10.1007/8904_2014_405 Document Type: Chapter

Times cited : (45)

References (9)

1
- 84928693524
- Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomo-tor delay
- Ben-Salem S, Gleeson JG, Al-Shamsi AM et al (2014) Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomo-tor delay. Metab Brain Dis. doi:10.1007/s1011-014-9618-0
- (2014) Metab Brain Dis
- Ben-Salem, S.¹ Gleeson, J.G.² Al-Shamsi, A.M.³

2
- 0028246154
- Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency
- Bourgeron T, Chretien D, Poggi-Bach J et al (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93:2514
- (1994) J Clin Invest , vol.93 , pp. 2514
- Bourgeron, T.¹ Chretien, D.² Poggi-Bach, J.³

3
- 27644536273
- Congenital glutamine deficiency with glutamine synthetase mutations
- Haberle J, Gorg B, Rutsch F et al (2005) Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 353:1926–1933
- (2005) N Engl J Med , vol.353 , pp. 1926-1933
- Haberle, J.¹ Gorg, B.² Rutsch, F.³

4
- 0029820985
- Cloning of cDNA for asparagine synthetase from rat Sertoli cell
- Hongo S, Chiyo T, Takeda M (1996) Cloning of cDNA for asparagine synthetase from rat Sertoli cell. Biochem Mol Biol Int 38:189–196
- (1996) Biochem Mol Biol Int , vol.38 , pp. 189-196
- Hongo, S.¹ Chiyo, T.² Takeda, M.³

5
- 84885758467
- Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy
- Ruzzo EK, Capo-Chichi J-M, Ben-Zeev B et al (2013) Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 80:429–441
- (2013) Neuron , vol.80 , pp. 429-441
- Ruzzo, E.K.¹ Capo-Chichi, J.-M.² Ben-Zeev, B.³

6
- 0003720078
- McGraw-Hill, New York/London
- Scriver CR (2001) The metabolic & molecular bases of inherited disease. McGraw-Hill, New York/London
- (2001) The Metabolic & Molecular Bases of Inherited Disease
- Scriver, C.R.¹

7
- 0027994133
- Creatine deficiency in the brain: A new, treatable inborn error of metabolism
- Stockler S, Holzbach U, Hanefeld F et al (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36:409–413
- (1994) Pediatr Res , vol.36 , pp. 409-413
- Stockler, S.¹ Holzbach, U.² Hanefeld, F.³

8
- 84880239424
- An update on serine deficiency disorders
- van der Crabben SN, Verhoeven-Duif NM, Brilstra EH et al (2013) An update on serine deficiency disorders. J Inherit Metab Dis 36:613–619
- (2013) J Inherit Metab Dis , vol.36 , pp. 613-619
- van der Crabben, S.N.¹ Verhoeven-Duif, N.M.² Brilstra, E.H.³

9
- 0024651370
- Molecular structure of the human asparagine synthetase gene
- Zhang YP, Lambert MA, Cairney AE, Wills D, Ray PN, Andrulis IL (1989) Molecular structure of the human asparagine synthetase gene. Genomics 4:259–265
- (1989) Genomics , vol.4 , pp. 259-265
- Zhang, Y.P.¹ Lambert, M.A.² Cairney, A.E.³ Wills, D.⁴ Ray, P.N.⁵ Andrulis, I.L.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.