JIMD Reports, Volume 28
Springer Berlin (Verlag)
978-3-662-52846-4 (ISBN)
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.- Novel Direct Assay for Acetyl-CoA: -Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy.- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?.- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.- Lower UrinaryTract Symptoms and Incontinence in Children with Pompe Disease.- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.- In Patients with an -Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.- In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family History.- Multiple, Successful Pregnancies in Pompe Disease.- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
| Erscheinungsdatum | 08.10.2016 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 135 p. |
| 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 • Mendelian disorder • Metabolic disease • metabolic diseases • Molecular Medicine • Pediatrics |
| ISBN-10 | 3-662-52846-0 / 3662528460 |
| ISBN-13 | 978-3-662-52846-4 / 9783662528464 |
| Zustand | Neuware |
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