Buch, Englisch, 117 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3215 g
Reihe: JIMD Reports
Buch, Englisch, 117 Seiten, Format (B × H): 210 mm x 279 mm, Gewicht: 3215 g
Reihe: JIMD Reports
ISBN: 978-3-662-55832-4
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 Klinische und Innere Medizin Stoffwechselstörungen
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
- Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie
Weitere Infos & Material
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability .- Hyperammonemia as a Presenting Feature in Two Siblings with Variants.- Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital.- Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–Nyhan Disease: A Case Report and Review of the Literature.- Vitamin B Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient.- Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.- Previously Unreported Biallelic Mutation in Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?.- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.- Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.- Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.- Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.- Analysis of Melanin-like Pigment Synthesized from Homogentisic Acid, with or without Tyrosine, and Its Implications in Alkaptonuria.- Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.- Cognitive Development in a Young Child with Mucolipidosis Type IV: A Case Report.- White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.- Erratum to: White Matter Microstructure and Subcortical Gray Matter Structure Volumes in Aspartylglucosaminuria; a 5-Year Follow-up Brain MRI Study of an Adolescent with Aspartylglucosaminuria and His Healthy Twin Brother.
