Buch, Englisch, Band 38, 105 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 315 g
Reihe: JIMD Reports
Buch, Englisch, Band 38, 105 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 315 g
Reihe: JIMD Reports
ISBN: 978-3-662-56609-1
Verlag: Springer
The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com.
Zielgruppe
Research
Autoren/Hrsg.
Fachgebiete
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Stoffwechselstörungen
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Molekulare Medizin, Zellbiologie
Weitere Infos & Material
First Successful Conception Induced by a Male Cystinosis Patient.- Glutaric Acidemia Type 1: A Case of Infantile Stroke.- Treatment of Depression in Adults with Fabry Disease.- Mutations in GMPPB Presenting with Pseudometabolic Myopathy.- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism.- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.- Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice.- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1.- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment.- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
