Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

Author:

Rosenblatt D. S.1234,Aspler A. L.13,Shevell M. I.4,Pletcher B. A.5,Fenton W. A.6,Seashore M. R.67

Affiliation:

1. ; Department of Human Genetics; McGill University; Montreal Quebec Canada

2. ; Department of Biology; McGill University; Montreal Quebec Canada

3. ; Department of Medicine; McGill University; Montreal Quebec Canada

4. ; Department of Pediatrics; McGill University; Montreal Quebec Canada

5. ; Department of Pediatrics; University of Medicine and Dentistry - New Jersey Medical School; Newark New Jersey USA

6. ; Department of Genetics; Yale University; New Haven Connecticut USA

7. ; Department of Pediatrics; Yale University; New Haven Connecticut USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. A unique case of derangement of vitamin B12 metabolism;Anthony;Proc Aust Assoc Neurol,1976

2. Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology;Baumgartner;Helv Paediatr Acta,1979

3. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria;Bellini;Eur J Pediatr,1992

4. Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type);Brandstetter;Am J Med Genet,1990

5. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria;Cogan;Am J Ophthalmol,1980

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3