Overview

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.

Full Product Details

Author:   Eva Morava ,  Matthias Baumgartner ,  Marc Patterson ,  Shamima Rahman
Publisher:   Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Imprint:   Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Edition:   1st ed. 2018
Volume:   39
Weight:   0.454kg
ISBN:  

9783662575765

ISBN 10:   3662575760
Pages:   116
Publication Date:   24 May 2018
Audience:   College/higher education ,  Postgraduate, Research & Scholarly
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
We will order this item for you from a manufactured on demand supplier.

Table of Contents

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- -Glucosaminidase in Mucopolysaccharidosis Type IIIB.- Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review.

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