Glycogen Storage Disease Type III diagnosis and management guidelines

被引:174
作者
Kishnani, Priya S. [1 ]
Austin, Stephanie L. [1 ]
Arn, Pamela [4 ]
Bali, Deeksha S. [1 ]
Med, Anne Boney [1 ]
Case, Laura E. [2 ]
Chung, Wendy K. [5 ]
Desai, Dev M. [6 ,7 ]
El-Gharbawy, Areeg [1 ]
Haller, Ronald [8 ,9 ]
Smit, Peter A. [3 ]
Smith, Alastair D. [3 ]
Hobson-Webb, Lisa D. [3 ]
Wechsler, Stephanie Burns [1 ]
Weinstein, David A. [10 ]
Watson, Michael S. [11 ]
机构
[1] Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA
[2] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC 27710 USA
[3] Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA
[4] Nemours Childrens Clin, Dept Pediat, Jacksonville, FL USA
[5] Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA
[6] Univ Texas SW Med Ctr Dallas, Dept Surg, Dallas, TX 75390 USA
[7] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA
[8] Univ Texas SW Med Ctr Dallas, Dept Neurol, Dallas, TX 75390 USA
[9] Univ Texas SW Med Ctr Dallas, Dept Internal Med, Dallas, TX 75390 USA
[10] Univ Florida, Coll Med, Dept Pediat, Gainesville, FL USA
[11] Amer Coll Med Genet, Bethesda, MD USA
关键词
DEBRANCHING ENZYME GENE; BONE-MINERAL DENSITY; LONG-TERM; LIVER-TRANSPLANTATION; SUCCESSFUL PREGNANCY; CARDIAC INVOLVEMENT; AMYLO-1,6-GLUCOSIDASE ACTIVITY; HEPATOCELLULAR-CARCINOMA; NEUROMUSCULAR DISORDER; NUCLEOTIDE-SEQUENCE;
D O I
10.1097/GIM.0b013e3181e655b6
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Disclaimer: ACMG standards and guidelines are designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticists should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.
引用
收藏
页码:446 / 463
页数:18
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