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-CoA 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.
- ISBN:
- 9783662541180
- 9783662541180
-
Category:
- Molecular biology
- Format:
- Paperback
- Publication Date:
-
04-05-2017
- Language:
- English
- Publisher:
- Springer
- Country of origin:
- United States
- Dimensions (mm):
- 279x210mm
- Weight:
- 3.12kg
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