دانلود کتاب JIMD Reports, Volume 31

فهرست مطالب :

Front Matter....Pages i-vi
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents....Pages 1-9
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency....Pages 11-14
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders....Pages 15-27
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders....Pages 29-36
Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease....Pages 37-44
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency....Pages 45-49
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots....Pages 51-56
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes....Pages 57-62
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency....Pages 63-71
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels....Pages 73-77
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report....Pages 79-83
Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients....Pages 85-93
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency....Pages 95-99
Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?....Pages 101-106
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency....Pages 107-111
Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency....Pages 113-113