SCOPUS 정보 검색 플랫폼

Advances in Experimental Medicine and Biology

Volumn 466, Issue , 2000, Pages 347-351

Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency

(6) Ijlst, L a Ruiter, J P N a Oostheim, W a Niezen Koning, K E b Palmieri, F c Wanders, R J A a

a UNIVERSITY OF AMSTERDAM (Netherlands)

b UNIVERSITY MEDICAL CENTER GRONINGEN (Netherlands)

c UNIVERSITY OF BARI (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MYRISTIC ACID; PALMITIC ACID;

CARNITINE ACYL CARNITINE CARRIER DEFICIENCY; CLINICAL FEATURE; CONFERENCE PAPER; ENZYME ACTIVITY; FATTY ACID OXIDATION; FIBROBLAST; HUMAN; METABOLIC DISORDER; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANIMALS; CARDIOMYOPATHIES; CARNITINE ACYLTRANSFERASES; CARRIER PROTEINS; FATAL OUTCOME; FATTY ACIDS; FEMALE; HUMANS; INFANT; LIPID METABOLISM, INBORN ERRORS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RATS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0034468922 PISSN: 00652598 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (4)

References (9)

1
- 0026703357
- A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
- (1992) N. Eng. J. Med. , vol.327 , pp. 19-23
- Stanley, C.A.¹ Hale, D.E.² Berry, G.T.³ DeLeeuw, S.⁴ Boxer, J.⁵ Bonnefont, J.P.⁶

2
- 0031044917
- The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins
- (1997) Biochem. J. , vol.321 , pp. 713-719
- Indiveri, C.¹ Iacobazzi, V.² Giangregorio, N.³ Palmieri, F.⁴

3
- 0030776297
- Carnitine-acylcarnitine translocase deficiency-A mild phenotype
- (1995) J. Inher. Metab. Dis. , vol.20 , pp. 714-715
- Olpin, S.E.¹ Bonham, J.R.² Downing, M.³ Manning, N.J.⁴ Pollitt, R.J.⁵ Sharrard, M.J.⁶ Tanner, M.S.⁷

4
- 17344366560
- Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
- (1997) Am. J. Hum. Genet. , vol.61 , pp. 1239-1245
- Huizing, M.¹ Iacobazzi, V.² Ijlst, L.³ Savelkoul, P.⁴ Ruitenbeek, W.⁵ Van den Heuvel, L.⁶ Indiveri, C.⁷ Smeitink, J.⁸ Trijbels, F.⁹ Wanders, R.J.A.¹⁰ Palmieri, F.¹¹

5
- 0029020109
- A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency
- (1995) J. Inher. Metab. Dis. , vol.18 , pp. 230-232
- Niezen-Koning, K.E.¹ Van Sprongen, F.J.² Ijlst, L.³ Wanders, R.J.A.⁴ Brivet, M.⁵ Duran, M.⁶ Reijngoud, D.J.⁷ Heymans, H.S.A.⁸ Smit, G.P.⁹

6
- 0023492550
- Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders
- (1987) J. Clin. Invest. , vol.80 , pp. 1778-1783
- Wanders, R.J.A.¹ Van Roermund, C.W.T.² Van Wijland, M.J.A.³ Schutgens, R.B.H.⁴ Heikoop, J.⁵ Van der Bosch, H.⁶ Schram, A.W.⁷ Tager, J.M.⁸

7
- 0032145885
- Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
- in press
- (1998) J. Clin. Invest.
- Ijlst, L.¹ Mandel, H.² Oostheim, W.³ Ruiter, J.P.N.⁴ Gutman, A.⁵ Wanders, R.J.A.⁶

8
- 0023277545
- Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
- (1987) Anal. Biochem. , vol.162 , pp. 156-159
- Chomczynski, P.¹ Sacchi, N.²

9
- 0028597508
- Molecular basis of long-chain 3-hydroxyacl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
- (1994) Biochim. Biophys. Acta. , vol.1215 , pp. 347-350
- Ijlst, L.¹ Wanders, R.J.A.² Ushikubo, S.³ Kamijo, T.⁴ Hashimoto, T.⁵

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.