JIMD Reports, Volume 32 /
| Autor Corporativo: | |
|---|---|
| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2017.
|
| Edición: | 1st ed. 2017. |
| Colección: | JIMD Reports,
32 |
| Materias: |
Tabla de Contenidos:
- 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.