JIMD reports. Volume 32 /
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| Imprint: | Berlin, Germany : Springer, 2017. |
|---|---|
| Description: | 1 online resource (vi, 124 pages) : illustrations (some color) |
| Language: | English |
| Series: | JIMD reports, 2192-8304 JIMD reports. |
| Subject: | |
| Format: | E-Resource Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/11272028 |
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.