JIMD Reports, Volume 32
1st Edition
Published on 28. February 2017
VI, 124 pages
978-3-662-54385-6 (ISBN)
Description
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.
More details
Series
Language
English
Place of publication
Berlin
Germany
Publishing group
Springer Berlin
Target group
Professional and scholarly
Product notice
Reflowable
Illustrations
VI, 124 p. 30 illus., 15 illus. in color.
File size
3,71 MB
ISBN-13
978-3-662-54385-6 (9783662543856)
DOI
10.1007/978-3-662-54385-6
Schweitzer Classification
Other editions
Additional editions
Eva Morava | Matthias Baumgartner | Marc Patterson
JIMD Reports, Volume 32
Book
03/2017
Springer
€106.99
Shipment within 7-9 days
Content
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
