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Volumn 168, Issue 7, 2006, Pages 667-670

Three congenital metabolic diseases in the Faeroe Islands;Tre medfødte metaboliske sygdomme på Faerøerne

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; HOLOCARBOXYLASE SYNTHETASE; SYNTHETASE; UNCLASSIFIED DRUG;

EID: 33644868146     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (14)
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    • West, J.F.1
  • 2
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  • 3
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    • Parvari R, Moses S, Shen JJ et al. A single deletion in 3-prime coding region of glycogen-debraching enzyme is prevalent in glycogen storage syndrom type IIIA in population of North Africa Jewish children. Europ J Hum Gent 1997;5:266-70.
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  • 5
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    • Amylo-1,6-glucosidase defekt (glycogenosis type III) in Faroe Islands
    • Conn J, Wang P, Hauge M et al. Amylo-1,6-glucosidase defekt (glycogenosis type III) in Faroe Islands. Hum Hered 1975;25:115-26.
    • (1975) Hum Hered , vol.25 , pp. 115-126
    • Conn, J.1    Wang, P.2    Hauge, M.3
  • 6
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    • Molecular genetic basis ad prevalence of glycogen storage disease type IIIA in Faroe Islands
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  • 7
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    • Lambonwah A-M, Olpin SE, Pollitt RJ et al. Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 2002;111:271-84.
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  • 8
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    • β-lactam antibiotics as substrates for OCTN2, an organic cation / carnitine transporter
    • Ganapathy ME, Huang W, Rajan DP et al. β-Lactam antibiotics as substrates for OCTN2, an organic cation / carnitine transporter. J Biol Chem 2000;275:1699-707.
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  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.