紀錄類型: |
書目-電子資源
: Monograph/item
|
正題名/作者: |
JIMD reports./ edited by Eva Morava ... [et al.]. |
其他作者: |
Morava, Eva. |
出版者: |
Berlin, Heidelberg :Springer Berlin Heidelberg : : 2017., |
面頁冊數: |
vi, 124 p. :ill. (some col.), digital ;24 cm. |
內容註: |
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. |
Contained By: |
Springer eBooks |
標題: |
Metabolism, Inborn errors of. - |
電子資源: |
http://dx.doi.org/10.1007/978-3-662-54385-6 |
ISBN: |
9783662543856 |