JIMD reports. Volume 28 (2016)

• Record Type: Book
• Further Information: Note: Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
• Editors: Zschocke, Johannes; Baumgartner, Matthias R; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena
• Contents: Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.- Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy.- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better?.- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency.- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice.- In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.- In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History.- Multiple, Successful Pregnancies in Pompe Disease.- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014).
• Publisher Details: Heidelberg : Springer
• Publication Date: 2016
• Extent: 1 online resource (vi, 135 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; Electronic books
• Languages: English
• ISBNs: 9783662528471; 3662528479
• Related ISBNs: 9783662528464; 3662528460
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (SpringerLink, viewed July 13, 2016).; Note: Print version record.
• 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.