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Book on DemandKartoniert, Paperback
116 Seiten
Englisch
Springererschienen am24.05.20181st ed. 2018
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.mehr
Verfügbare Formate
E-BookPDF1 - PDF WatermarkE-Book
EUR53,49
Book on DemandKartoniert, Paperback
EUR53,49

Produkt

KlappentextJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Zusammenfassung
Unique collection of case and research reports on rare metabolic disorders

Contains unusual or previously unrecorded features relevant to metabolic disorders

All contributions rigorously peer-reviewed
Details
ISBN/GTIN978-3-662-57576-5
ProduktartBook on Demand
EinbandartKartoniert, Paperback
Verlag
Erscheinungsjahr2018
Erscheinungsdatum24.05.2018
Auflage1st ed. 2018
ReiheJIMD Reports
Seiten116 Seiten
SpracheEnglisch
Gewicht344 g
IllustrationenVI, 116 p. 20 illus., 8 illus. in color.
Artikel-Nr.45193100
Rubriken
GenreMedizin

Inhalt/Kritik

Inhaltsverzeichnis
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency.- Role of Intramuscular Levofolinate Administration in the Treatment 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 Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.mehr

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