JIMD reports. Volume 31 (2017)

• 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: Morava, Eva; Baumgartner, Matthias R; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena
• Contents: Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents -- Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency -- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders -- Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders -- Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency -- Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots -- Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes -- Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency -- N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels -- Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report -- Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients -- Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency -- Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? -- Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency -- Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.
• Publisher Details: Berlin, Germany : Springer
• Publication Date: 2017
• Extent: 1 online resource (vi, 111 pages), illustrations (some color)
• 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; Metabolism, Inborn Errors; 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: 9783662541197; 3662541181; 9783662541180
• Related ISBNs: 366254119X; 9783662541180
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed January 19, 2017).
• 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.