Buch, Englisch, Band 36, 120 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3309 g
Reihe: JIMD Reports
Buch, Englisch, Band 36, 120 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3309 g
Reihe: JIMD Reports
ISBN: 978-3-662-56137-9
Verlag: Springer
All contributions rigorously peer-reviewed
Zielgruppe
Research
Autoren/Hrsg.
Fachgebiete
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
- 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
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency.- Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.- Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C.- Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS.- Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?.- The Spectrum of Niemann-Pick Type C Disease in Greece.- What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?.- A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica.- Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency.- Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1.- Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1.- Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency.- An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom.- Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology.- Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
