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Life with too much polyprenol: polyprenol reductase deficiency.
Gründahl, J E H; Guan, Z; Rust, S; Reunert, J; Müller, B; Du Chesne, I; Zerres, K; Rudnik-Schöneborn, S; Ortiz-Brüchle, N; Häusler, M G; Siedlecka, J; Swiezewska, E; Raetz, C R H; Marquardt, T.
Affiliation
  • Gründahl JE; Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany.
Mol Genet Metab ; 105(4): 642-51, 2012 Apr.
Article in En | MEDLINE | ID: mdl-22304929
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Congenital Disorders of Glycosylation / Pentanols / Membrane Proteins / Mutation Type of study: Diagnostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: Germany Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Congenital Disorders of Glycosylation / Pentanols / Membrane Proteins / Mutation Type of study: Diagnostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: Germany Country of publication: United States