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Hospital Medicine

Volumn 61, Issue 3, 2000, Pages 212-213

MADD or drunk? Adults have inborn errors too

(4) Stojanovic, N a,b Walker, V a Catling, W a Coppinl, D V a

a SOUTHAMPTON GENERAL HOSPITAL (United Kingdom)

b POOLE HOSPITAL NHS FOUNDATION TRUST (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DESATURASE;

ADULT; ALCOHOL INTOXICATION; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENETICS; HUMAN; RECESSIVE GENE;

ACYL-COA DEHYDROGENASE; ADULT; ALCOHOLIC INTOXICATION; AMINO ACID METABOLISM, INBORN ERRORS; DIAGNOSIS, DIFFERENTIAL; FATTY ACID DESATURASES; FEMALE; GENES, RECESSIVE; HUMANS;

EID: 0034155210 PISSN: 14623935 EISSN: None Source Type: Journal
DOI: 10.12968/hosp.2000.61.3.1304 Document Type: Article

Times cited : (2)

References (8)

1
- 0025296601
- Hyperammonemia in women with a mutation at the ornithine earbamoyltransferase locus
- Arn PH, Hauser ER, Thomas GH, Herman G, Hess D, Brusilow SW (1990) Hyperammonemia in women with a mutation at the ornithine earbamoyltransferase locus. N Engl J Med 322:1652-5
- (1990) N Engl J Med , vol.322 , pp. 1652-1655
- Arn, P.H.¹ Hauser, E.R.² Thomas, G.H.³ Herman, G.⁴ Hess, D.⁵ Brusilow, S.W.⁶

2
- 0025010001
- Electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO) deficiency in an adult
- Bell RB, Brownell AKW, Roe CR et al (1990) Electron transfer flavoprotein:ubiquinone oxidoreductase (ETF-QO) deficiency in an adult. Neurology 40: 1779-82
- (1990) Neurology , vol.40 , pp. 1779-1782
- Bell, R.B.¹ Akw, B.² Roe, C.R.³

3
- 0030782409
- Mitochondria! medicine
- Chinnery PF, Turnbull DM (1997) Mitochondria! medicine. Q J Med 90: 657-67
- (1997) Q J Med , vol.90 , pp. 657-667
- Chinnery, P.F.¹ Turnbull, D.M.²

4
- 0018603668
- Dusheiko G, Kew MC, Joffe Bl, Lewin JR. Mantagos S, Tanaka K (1979) Recurrent hypoglycemia associated with glutaric aciduria type 11 in an adult. .V Engl J Med 301:1405-9
- (1979) Recurrent Hypoglycemia Associated with Glutaric Aciduria Type , vol.11 , pp. 1405-1409
- Dusheiko, G.¹ Kew, M.C.² Joffe, B.³ Lewin, J.R.⁴ Mantagos, S.⁵ Tanaka, K.⁶

5
- 0000787687
- Nuclearencoded defects of the mitochondrial respiratory chain, including glutaric aciduria type II
- Frerman FE. Goodman SI (1995) Nuclearencoded defects of the mitochondrial respiratory chain, including glutaric aciduria type II. In: Scriver CR, Beaudct AL. Sly WS, Valle D, eds. The Metabolie and Molecular Bases of Inherited Disease. 7th edn. McGraw Hill. New York: 1611-29
- (1995) In: Scriver CR, Beaudct AL. Sly WS, Valle D, Eds. the Metabolie and Molecular Bases of Inherited Disease. , vol.7 , pp. 1611-1629
- Frerman, F.E.¹ Goodman, S.I.²

6
- 0020613032
- Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother
- Harpey J-P, Charpentier C, Goodman SI et al (1983) Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. J Pediatr 103: 394-8
- (1983) J Pediatr , vol.103 , pp. 394-398
- Harpey, J.-P.¹ Charpentier, C.² Goodman, S.I.³

7
- 0025240731
- Glutaric acidemia Type II: Heterogeneity of clinical and biochemical phcnotypes
- Eoehr JP, Goodman SI, Frerman FE (1990) Glutaric acidemia Type II: heterogeneity of clinical and biochemical phcnotypes. Pediatr 27:311-5
- (1990) Pediatr , vol.27 , pp. 311-315
- Eoehr, J.P.¹ Goodman, S.I.² Frerman, F.E.³

8
- 0026528269
- Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case
- Mongini T, Doriguzzi C', Palmucci L et al ( 1992) Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. Eur Neurom; 170-6
- (1992) Eur Neurom , pp. 170-176
- Mongini, T.¹ Doriguzzi, C.² Palmucci, L.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.