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Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

التفاصيل البيبلوغرافية
العنوان: Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol
المؤلفون: J. Skodova, Vladimir Bzduch, Gaetano Corso, E. Véghová, A Dello Russo, F. Bauer, D. Behulova, Libor Kozák
المساهمون: Bzduch, V, Behulova, D, Kozak, L, Skodova, J, Veghova, E, DELLO RUSSO, Antonio, Corso, G, Bauer, F.
المصدر: Journal of inherited metabolic disease. 23(6)
سنة النشر: 2000
مصطلحات موضوعية: Male, medicine.medical_specialty, Oxidoreductases Acting on CH-CH Group Donors, Congenital Abnormalities, chemistry.chemical_compound, Plasma cholesterol, Internal medicine, Blood plasma, Genetics, Medicine, Humans, Genetics (clinical), business.industry, Cholesterol, Infant, Newborn, medicine.disease, Smith-Lemli-Opitz Syndrome, Endocrinology, chemistry, Smith–Lemli–Opitz syndrome, Recien nacido, Mutation, business, Oxidoreductases, Polymorphism, Restriction Fragment Length
تدمد: 0141-8955
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a847dfa9ee02fdf36dc33573809694b
https://pubmed.ncbi.nlm.nih.gov/11032340
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....7a847dfa9ee02fdf36dc33573809694b
قاعدة البيانات: OpenAIRE
الوصف
تدمد:01418955