Baumgartner, Matthias
JIMD Reports, Volume 31
1. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Nina A. Zeltner, Markus A. Landolt, Matthias R. Baumgartner, Sarah Lageder, Julia Quitmann, Rachel Sommer, Daniela Karall, Chris Mühlhausen, Andrea Schlune, Sabine Scholl-Bürgi, Martina Huemer
2. Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase Deficiency
Alexander Laemmle, Tamar Stricker, Johannes Häberle
3. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Jyotsna Verma, Divya C. Thomas, David C. Kasper, Sandeepika Sharma, Ratna D. Puri, Sunita Bijarnia-Mahay, Pramod K. Mistry, Ishwar C. Verma
4. Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders
Amy Brown, Louise Crowe, Avihu Boneh, Vicki Anderson
5. Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease
Andrew Talbot, Gary Hammerschlag, Jeremy Goldin, Kathy Nicholls
6. Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency
Carlos R. Ferreira, Kristina Cusmano-Ozog
7. Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper Spots
Gabriella Jacomelli, Vanna Micheli, Giulia Bernardini, Lia Millucci, Annalisa Santucci
8. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes
Natascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, Laurent Legault, Britt Drogemoller, Colin J.D. Ross, Wyeth W. Wasserman, Clara Karnebeek, Daniela Buhas
9. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency
Irene Biase, Krista S. Viau, Aiping Liu, Tatiana Yuzyuk, Lorenzo D. Botto, Marzia Pasquali, Nicola Longo
10.
Lance H. Rodan, Gerard T. Berry
11. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report
Mari Mori, Lauren A. Bailey, Januario Estrada, Catherine W. Rehder, Jennifer S. Li, Joseph G. Rogers, Deeksha S. Bali, Anne F. Buckley, Priya S. Kishnani
12. Chronic Diarrhea in
M. A. Spitz, M. A. Nguyen, S. Roche, B. Heron, M. Milh, P. Lonlay, L. Lion-François, H. Testard, S. Napuri, M. Barth, S. Fournier-Favre, L. Christa, C. Vianey-Saban, C. Corne, A. Roubertie
13. Hyperammonemia due to Adult-Onset
Anne-Els Logt, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Mirian C. H. Janssen
14. Glycine
Ivo Barić, Sahin Erdol, Halil Saglam, Mila Lovrić, Robert Belužić, Oliver Vugrek, Henk J. Blom, Ksenija Fumić
15. Disease Heterogeneity in Na
Irina Anselm, Morgan MacCuaig, Sanjay B. Prabhu, Gerard T. Berry
16. Erratum to: Disease Heterogeneity in Na
Irina Anselm, Morgan MacCuaig, Sanjay P. Prabhu, Gerard T. Berry
Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine
- Editor
- Baumgartner, Matthias
- Morava, Eva
- Patterson, Marc
- Peters, Verena
- Rahman, Shamima
- Zschocke, Johannes
- Publisher
- Springer
- Publication year
- 2017
- Language
- en
- Edition
- 1
- Series
- JIMD Reports
- Page amount
- 6 pages
- Category
- Medicine, Health Care, Mode
- Format
- Ebook
- eISBN (PDF)
- 9783662541197
- Printed ISBN
- 978-3-662-54118-0