Baumgartner, Matthias

JIMD Reports, Volume 31

Baumgartner, Matthias - JIMD Reports, Volume 31, ebook


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Table of contents

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. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels
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 l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
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 N-Acetylglutamate Synthase Deficiency
Anne-Els Logt, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Mirian C. H. Janssen

14. Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?
Ivo Barić, Sahin Erdol, Halil Saglam, Mila Lovrić, Robert Belužić, Oliver Vugrek, Henk J. Blom, Ksenija Fumić

15. Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Irina Anselm, Morgan MacCuaig, Sanjay B. Prabhu, Gerard T. Berry

16. Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
Irina Anselm, Morgan MacCuaig, Sanjay P. Prabhu, Gerard T. Berry

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Molecular Medicine

Publication year
JIMD Reports
Page amount
6 pages
Medicine, Health Care, Mode
Printed ISBN

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