Eva Morava & Matthias Baumgartner 
JIMD Reports, Volume 31 [PDF ebook] 

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.

Table des matières

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-Co A 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.