KOMPLEKS MOLEKÜL HASTALIKLARINDA TANI VE TEDAVİLER

İzlence Formu

Ders Adı KOMPLEKS MOLEKÜL HASTALIKLARINDA TANI VE TEDAVİLER Kod COME7014
Kredi 2 AKTS 6
Z/S Zorunlu Teorik Saat 1
Uygulama Saat 2 Lab Saat 0
Ders Dili Türkçe Dersi Veren Prof. Dr. MÜBECCEL DEMİRKOL
Dersin Veriliş Türü

Dersin Amacı

Hücre içi metabolizma bozuklukları, pirin ve pirimidin, porfirin, steroid ve safra asit metabolizması bozuklukları hakkında ayrıntılı biyokimyasal ve klinik bilgi verilir.

İçerik

Hücre içi metabolizma bozuklukları, pirin ve pirimidin, porfirin, steroid ve safra asit metabolizması bozukluklarının işlendiği derstir.

Öğretim Yöntemleri

Dersler bilgisayar ve barkovizyondan yararlanılarak sözlü olarak işlenir.

Kaynaklar

Blau N, Duran M, Blaskovics ME. Gibson KM, eds. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases,2nd edition. Berlin: Springer-Verlag, 2003. Blau N, Hoffmann GF, Leonard J, Clarke JTR, eds. Physician’sGuide to the Treatment and Follow-up of Metabolic Diseases,Berlin, Heidelberg: Springer-Verlag, 2006. Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998, 102 (6): E 69. Christodoulou J, Mc Innes RR. A clinical approach to inborn errors of metabolism. In: Rudolph AM, Kamei RK, eds. Rudolph’s Fundamentals of Pediatrics, 2nd edition. Stanford: Appleton and Lange l998:181-208. Clarke JTR. A Clinical Guide to Inherited Metabolic Diseases.Cambridge University Press, 1996:1-267. Clayton PT, Thompson E. Dysmorphic syndromes with demonstrable biochemical abnormalities. J Med Genet 1988;25:463-472. Fernandes J, Saudubray JM, van denBerghe G, Walter JH, eds.Inborn Metabolic Diseases. Diagnosis and Treatment, 4th edition. Heidelberg: Springer-Verlag, 2006. Hainline BE, Wappner RS. Disorders of mitochondrial fatty acid oxidation. In:McMillan JA, Feigin, RD, DeAngelis CD,Warshaw JB, eds. Oski’s Pediatrics. 4th edition. Philadelphia:Lippincott Williams and Wilkins, 2006: 2175-2181. Kliegman RM, Behrman E, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics, 18th edition, Philadelphia: Saunders Elsevier, 2007. Nyhan L, Ozand PT. Atlas of Metabolic Diseases. London:Chapman & Hall, 1998: 1-654. OMIM- Online Mendelian Inheritance in Man http://www.ncbi.nlm.nih.gov Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edition. New York: McGraw-Hill, 2001. Zschocke J, Hoffmann GF. Vademecum Metabolicum. Manualof Metabolic Paediatrics, 2nd edition. Leck, Germany:Clausen & Bosse, 2004

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