SCOPUS 정보 검색 플랫폼

Volumn 138, Issue 2, 2001, Pages 277-279

Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

(4) Kölker, Stefan a,b Ramaekers, Vincent T a,b Zschocke, Johannes a,b Hoffmann, Georg F a,b

a UNIVERSITY HOSPITAL HEIDELBERG (Germany)

b UNIVERSITY HOSPITAL RWTH AACHEN (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL EXAMINATION; DIET SUPPLEMENTATION; ENZYME DEFICIENCY; GLUTARIC ACIDURIA TYPE I; HOMOZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN INTAKE; PSYCHOMOTOR DEVELOPMENT;

EID: 0035131250 PISSN: 00223476 EISSN: None Source Type: Journal
DOI: 10.1067/mpd.2001.110303 Document Type: Article

Times cited : (19)

References (11)

1
- 0000389537
- Organic acidemias due to defects in lysine oxidation: 2-ketoadipic acidemia and glutaric acidemia
- Scriver CR, Beaudet LA, Sly WS, Valle D, editors. Basis of inherited metabolic disease. 7th ed. New York: McGraw Hill
- (1995) , pp. 1451-1460
- Goodman, S.I.¹ Frerman, F.E.²

2
- 8944233364
- Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency
- (1996) Neuropediatrics , vol.27 , pp. 115-123
- Hoffmann, G.F.¹ Athanassopoulos, S.² Burlina, A.B.³ Duran, M.⁴ DeKlerck, J.B.C.⁵ Lehnert, W.⁶

3
- 0032585736
- Sensitivity and specificity of free and total glutaric and 3-hydroxyglutaric acids measurements by stable isotope dilution assays for the diagnosis of glutaric aciduria type
- (1999) J Inherit Metab Dis , vol.22 , pp. 867-881
- Baric, I.¹ Wagner, L.² Feyh, P.³ Liesert, M.⁴ Buckel, W.⁵ Hoffmann, G.F.⁶

4
- 0017071784
- An improved and simplified radioisotopic assay for determination of free and esterified carnitine analysis
- (1976) J Lipid Res , vol.17 , pp. 277-281
- McGarry, J.D.¹ Foster, D.W.²

5
- 0034011279
- Mutation analysis in glutaric aciduria type I
- (2000) J Med Genet , vol.37 , pp. 177-181
- Zschocke, J.¹ Quak, E.² Guldberg, P.³ Hoffmann, G.F.⁴

6
- 0034120821
- Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management
- (2000) Arch Dis Child , vol.82 , pp. 67-70
- Monavari, A.A.¹ Naughten, E.R.²

7
- 0032809039
- Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria
- (1999) Mol Genet Metab , vol.66 , pp. 199-204
- Nyhan, W.L.¹ Zschocke, J.² Hoffmann, G.F.³ Stein, D.E.⁴ Bao, L.⁵ Goodman, S.⁶

8
- 0031880503
- Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations
- (1998) Hum Mutat , vol.12 , pp. 141-144
- Goodman, S.I.¹ Stein, D.E.² Schlesinger, S.³ Christensen, E.⁴ Schwartz, M.⁵ Greenberg, C.R.⁶

9
- 0342424353
- Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: A new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency
- (2000) Pediatr Res , vol.47 , pp. 495-503
- Kölker, S.¹ Ahlemeyer, B.² Krieglstein, J.³ Hoffmann, G.F.⁴

10
- 0032947526
- Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain
- (1999) Science , vol.283 , pp. 70-74
- Ikonomidou, C.¹ Bosch, F.² Miksa, M.³ Bittigau, P.⁴ Vöckler, J.⁵ Dikranian, K.⁶

11
- 0033006717
- Population newborn screening for inherited metabolic disease: Current UK perspectives
- (1999) J Inherit Metab Dis , vol.22 , pp. 572-579
- Green, A.¹ Pollitt, R.J.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.