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JIMD报告,第21卷-JIMD Reports, Volume 21

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上传于 2020-02-27 0次下载 4908次浏览
文件编号:1453
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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
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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

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JIMD报告,第21卷-JIMD Reports, Volume 21
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