JIMD Reports, Volume 27 /
| Autor Corporativo: | |
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| Otros Autores: | , , , , , |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2016.
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| Edición: | 1st ed. 2016. |
| Colección: | JIMD Reports,
27 |
| Materias: |
Tabla de Contenidos:
- 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
- SUCLA2< Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
- Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)
- Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles
- IgG N-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.