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10-1 大學二年級下學期生物化學- PBL第一題口頭報告
2019/03/29 23:54:18瀏覽92|回應0|推薦0

筆者大學二年級上學期故意沉默,看看書報聽聽音樂或是上網瞎逛,和大部份忙社團交友的差很多。除了大一得期末接了Year 2的bbs版主,大二上學期期末時筆者接生化小老師。上課固定開機和拿投影片貼在個人ftp空間上。分三次選擇題,藉著自己是版主之便,考古題和資源進行順暢共享。

以下是PBL的白麗美老師的命題和回答:

第一題 甲基丙二酸血症(Methylmalonic acidemia)基因原因和臨床徵兆,當時大腹便便的白老師指定三名合作準備一週作報告

以下摘錄參考資料一些

第一篇

Funded by the NIH  •  Developed at the University of Washington, Seattle

 

Methylmalonic Acidemia

 

[Methylmalonic Aciduria, Methylmalonicaciduria ]

Author:

         

Charles P Venditti, MD, PhD

About the Author

 

Initial Posting:

16 August 2005

 

Last Revision:

18 January 2007

(原文筆者因版權問題在此省略)

 

Author Information

 

Charles P Venditti, MD, PhD

Genetic Disease Research

National Human Genome Research Institute

National Institutes of Health

 

Dr Venditti is a pediatrician and biochemical geneticist. He is the director of the Organic Acid Disorder Research Unit at the National Human Genome Research Institute and an attending physician at the National Institutes of Health Clinical Center.

Revision History

 

    18 January 2007 (cd) Revision: testing for mutations in MMAA and MMAB clinically available

    16 August 2005 (me) Review posted to live Web site

    11 May 2004 (cpv) Original submission

 

第二篇的第一部份(Section 1 of 10),摘自eMedicine World Medical Library

Methylmalonic Acidemia

Last Updated: April 25, 2006          

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Synonyms and related keywords: methylmalonic acidemia, methylmalonic aciduria, MMA, methylmalonic acid

 

       AUTHOR INFORMATION              

Author Information Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Bibliography

 

Author: Olaf A Bodamer, MD, PhD, FACMG, Professor, Department of Pediatrics, University of Vienna Childrens Hospital, Vienna, Austria

 

Coauthor(s): Brendan Lee, MD, PhD, Associate Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

 

Olaf A Bodamer, MD, PhD, FACMG, is a member of the following medical societies: American Society of Human Genetics, and British Biochemical Society

 

Editor(s): Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany; Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc; Leonard G Feld, MD, PhD, MMM, Chairman of Pediatrics, Carolinas Medical Center; Chief Medical Officer, Levine Childrens Hospital, Carolinas Healthcare System; Paul D Petry, DO, FACOP, FAAP, Clinical Assistant Professor of Pediatrics, University of North Dakota, School of Medicine and Health Sciences; Consulting Staff, Altru Health System; and Bruce A Buehler, MD, Professor, Department of Pathology and Microbiology, Chairman, Department of Pediatrics, Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center

 

(之後的原文筆者因版權問題在此省略)

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