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.
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.
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 DeficiencyInherited 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.
Morava, Eva
Baumgartner, Matthias
Patterson, Marc
Rahman, Shamima
Zschocke, Johannes
Peters, Verena
| ISBN | 978-3-662-54118-0 |
|---|---|
| Artikelnummer | 9783662541180 |
| Medientyp | Buch |
| Copyrightjahr | 2017 |
| Verlag | Springer, Berlin |
| Umfang | VI, 111 Seiten |
| Abbildungen | VI, 111 p. 20 illus., 14 illus. in color. |
| Sprache | Englisch |
