JIMD reports. Volume 25 (2016)

• Record Type: Book
• Further Information: Note: Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor.
• Editors: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena
• Contents: Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III -- Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion -- New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria -- Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis -- The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease -- Improvement of Diffusion Tensor Imaging (DTI) Parameters with Decoppering Treatment in Wilson's Disease -- Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib -- Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI -- The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings -- Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 Mutation -- PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype? -- Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series -- GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings -- LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway -- Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2016
• Extent: 1 online resource (vi, 106 pages)
• Subjects: 616.3/9042; Medicine; Metabolism, Inborn errors of; Metabolism -- Disorders; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Metabolism -- Disorders; Metabolism, Inborn errors of; Medical -- Endocrinology & Metabolism; Medical -- Pediatrics; Science -- Life Sciences -- Biology -- Molecular Biology; Metabolism; Paediatric medicine; Medical research; Human genetics; Metabolic diseases; Pediatrics; Medical -- Genetics; Medical genetics; Electronic books
• Languages: English
• ISBNs: 9783662496688; 3662496682; 3662496674; 9783662496671
• Related ISBNs: 9783662496671
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (SpringerLink, viewed April 4, 2016).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.