Buch, Englisch, Band 27, 112 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3121 g
Reihe: JIMD Reports
Buch, Englisch, Band 27, 112 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3121 g
Reihe: JIMD Reports
ISBN: 978-3-662-50408-6
Verlag: Springer
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Zielgruppe
Research
Autoren/Hrsg.
Fachgebiete
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Medizin, Gesundheitswesen Biomedizin, Medizinische Forschung, Klinische Studien
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Stoffwechselstörungen
Weitere Infos & Material
Detailed
Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.- Recurrent
Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase
Deficiency.- Application
of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts
from Patients with Inherited Disorders.- SUCLA2N-Glycosylation Galactose
Incorporation Ratios for the Monitoring of Classical Galactosaemia.- Intracranial
Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia
in a Child with Ornithine Transcarbamylase Deficiency.- No
Evidence for Association of SCO2
Heterozygosity with High-Grade Myopia or Other Diseases with Possible
Mitochondrial Dysfunction.- Voluntary
Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.- Seizures
Due to a KCNQ2 Mutation: Treatment
with Vitamin B6.- The
Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic
Centres: Report from the SSIEM Adult Metabolic Physicians Group.- Electroclinical
Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation
(CDGs).- The
Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.- Further
Delineation of the ALG9-CDG Phenotype.
