JIMD Reports, Volume 32
Springer Berlin (Verlag)
978-3-662-54384-9 (ISBN)
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
| Erscheinungsdatum | 24.03.2017 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 124 p. 30 illus., 15 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Gewicht | 345 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Schlagworte | endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics |
| ISBN-10 | 3-662-54384-2 / 3662543842 |
| ISBN-13 | 978-3-662-54384-9 / 9783662543849 |
| Zustand | Neuware |
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