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Produktbild: JIMD Reports, Volume 31
Band 31

JIMD Reports, Volume 31

Aus der Reihe JIMD Reports

49,99 €

inkl. gesetzl. MwSt., Versandkostenfrei

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

16.01.2017

Abbildungen

VI, 111 p. 20 illus., 14 illus. in color.

Herausgeber

Eva Morava + weitere

Verlag

Springer Berlin

Seitenzahl

111

Maße (B/H)

21/27,9 cm

Gewicht

314 g

Auflage

1st ed. 2017

Sprache

Englisch

ISBN

978-3-662-54118-0

Beschreibung

Produktdetails

Einband

Taschenbuch

Erscheinungsdatum

16.01.2017

Abbildungen

VI, 111 p. 20 illus., 14 illus. in color.

Herausgeber

Verlag

Springer Berlin

Seitenzahl

111

Maße (B/H)

21/27,9 cm

Gewicht

314 g

Auflage

1st ed. 2017

Sprache

Englisch

ISBN

978-3-662-54118-0

Herstelleradresse

Springer Nature Customer Service Center GmbH
Europaplatz 3
69115 Heidelberg
DE
ProductSafety@springernature.com

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  • Produktbild: JIMD Reports, Volume 31
  • 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.