JIMD Reports, Volume 32 /

Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Morava, Eva. (Editor), Baumgartner, Matthias. (Editor), Patterson, Marc. (Editor), Rahman, Shamima. (Editor), Zschocke, Johannes. (Editor), Peters, Verena. (Editor)
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2017.
Edition:1st ed. 2017.
Series:JIMD Reports, 32
Subjects:
Table of Contents:
  • 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.