JIMD Reports, Volume 39

Chapter 36 Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency

Chapter 38 Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency

Chapter 39 Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases

Chapter 40 Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Chapter 41 The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

Chapter 42 Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with Miglustat

Chapter 43 Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis

Chapter 44 Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

Chapter 45 Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Chapter 46 Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Chapter 47 Social Functioning and Behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]

Chapter 48 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

Chapter 49 Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

Chapter 51 High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N- Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB

Chapter 52 Demographic and Psychosocial Influences on Treatment Adherence for Children and Adolescents with PKU: A Systematic Review