menu 简单麦麦
account_circle

JIMD报告,第21卷-JIMD Reports, Volume 21文件编号:1453

已经帮助了2547人找到了他们想要的文件
上传于 2020年2月27日 23:33
52次下载
606次围观
评分:4.5/5 ★ ★ ★ ★ ★
标题(title):JIMD Reports, Volume 21
JIMD报告,第21卷
作者(author):Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters (eds.)
出版社(publisher):Springer-Verlag Berlin Heidelberg
大小(size):5 MB (5040598 bytes)
格式(extension):pdf
注意:如果文件下载完成后为无法打开的格式,请修改后缀名为格式对应后缀


JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Table of contents :
Front Matter....Pages i-vi
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB....Pages 1-13
Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada....Pages 15-22
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics....Pages 23-33
Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk....Pages 35-43
Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients....Pages 45-55
A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy....Pages 57-63
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines....Pages 65-70
Autophagy in Natural History and After ERT in Glycogenosis Type II....Pages 71-77
Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?....Pages 79-88
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar....Pages 89-95
Diet History Is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria....Pages 97-102
Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report....Pages 103-107
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?....Pages 109-113
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding....Pages 115-122
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations....Pages 123-128
Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients....Pages 129-129


想了解更多信息?可向上传者提问。点击提问
欢迎您上传文件!
费劲心机找到了自己想要的文件?
不如上传简单麦麦!
分享给别人!还能赚取收益
下载须知
1.如有解压密码 提取码都在下面 注意查看
2.如果有问题 可以通过卖家联系方式 联系卖家 如果没有或无法解决可以联系官方客服
3.本文件为公益分享,文件由网上采集而来,如有侵权等问题,请及时联系客服删除

常见问题及官方客服联系方式:点击前往 售后问题处理方式:点击前往
-到底部了哦-
expand_less