JIMD Reports, Volume 30
Springer Berlin (Verlag)
978-3-662-53680-3 (ISBN)
Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I.- Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.- A New Approach for Fast Metabolic Diagnostics in CMAMMA.- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.- ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.- Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions.- A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.- Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor.- Identification of Cryptic Novel -Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.- Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.- Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency.- A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.- The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?.- Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.- Erratum to: Novel Report of Phosphoserine Phosphatase Deficiency in an Adult with Myeloneuropathy and Limb Contractures.
| Erscheinungsdatum | 26.11.2016 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 108 p. 20 illus., 13 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Schlagworte | Biomedical and Life Sciences • endocrinology • Human genetics • inherited metabolic diseases • medical genetics • Medical Research • Mendelian disorder • Metabolic disease • metabolic diseases • Metabolism • Molecular Biology • Molecular Medicine • Paediatric medicine • Pediatrics |
| ISBN-10 | 3-662-53680-3 / 3662536803 |
| ISBN-13 | 978-3-662-53680-3 / 9783662536803 |
| Zustand | Neuware |
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