JIMD reports. Volume 39 ([2018])

• Record Type: Book
• Further Information: Note: Eva Morava, editor-in-chief [and five others].
• Editors: Morava, Eva
• Contents: Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.- Role of Intramuscular Levofolinate Administration intheTreatment of Hereditary Folate Malabsorption: Report of Three Cases.- The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.- Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency.- Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.- Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.- Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat.- Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.- Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?.- Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.- Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome].- Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.- Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.- High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of MutantN-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.
• Publisher Details: Berlin, Germany : Springer Society for the Study of Inborn Errors of Metabolism
• Publication Date: 2018
• Extent: 1 online resource
• Subjects: 611.01816; 599.935; Medicine; Human genetics; Molecular biology; Metabolism -- Disorders; Pediatrics; Metabolism, Inborn errors of; Biomedicine; Human Genetics; Metabolic Diseases; Pediatrics; Molecular Medicine; Human genetics; Medicine; Metabolism -- Disorders; Metabolism, Inborn errors of; Molecular biology; Pediatrics; Electronic books
• Languages: English
• ISBNs: 3662575779; 9783662575772
• Notes: 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.