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Baumgartner, Matthias

JIMD Reports, Volume 37

Baumgartner, Matthias - JIMD Reports, Volume 37, ebook

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ISBN: 9783662563595
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Table of contents

1. Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
David Santosa, Markus G. Donner, Stephan Dahl, Markus Fleisch, Thomas Hoehn, Ertan Mayatepek, Katrin Heldt, Tim Niehues, Dieter Häussinger

2. Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort

3. Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis
Lisette M. Berends, Eduard A. Struys, Birthe Roos, Ulbe Holwerda, Erwin E. W. Jansen, Gajja S. Salomons, Mirjam M. C. Wamelink

4. Galactose Epimerase Deficiency: Expanding the Phenotype
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A. Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia

5. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Nina A. Zeltner, Matthias R. Baumgartner, Aljona Bondarenko, Regina Ensenauer, Daniela Karall, Stefan Kölker, Chris Mühlhausen, Sabine Scholl-Bürgi, Eva Thimm, Julia Quitmann, Peter Burgard, Markus A. Landolt, Martina Huemer

6. Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation
Francesca Minoia, Marta Bertamino, Paolo Picco, Mariasavina Severino, Andrea Rossi, Chiara Fiorillo, Carlo Minetti, Claudia Nesti, Filippo Maria Santorelli, Maja Rocco

7. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
Hallvard Reigstad, Berit Woldseth, Johannes Häberle

8. Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
M. Fleger, J. Willomitzer, R. Meinsma, M. Alders, J. Meijer, R. C. M. Hennekam, M. Huemer, A. B. P. Kuilenburg

9. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy
Sally P. Stabler, Cynthia Freehauf, Robert H. Allen, Janet Thomas, Renata Gallagher

10. Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency
Deeksha S. Bali, Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Surekha Pendyal, Catherine Rehder, Priya S. Kishnani

11. Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria
Charlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, Franck Patin, Hélène Henique, Patrick Emond, Catherine Antar, Valérie Gissot, Olivier Herault, François Maillot

12. The Impact of Fabry Disease on Reproductive Fitness
Dawn A. Laney, Virginia Clarke, Allison Foley, Eric W. Hall, Scott E. Gillespie, Myrl Holida, Morgan Simmons, Alexandrea Wadley

13. Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara

14. Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU)
Emma Medford, Dougal Julian Hare, Katie Carpenter, Stewart Rust, Simon Jones, Anja Wittkowski

15. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia
Lindsey Welling, Susan E. Waisbren, Kevin M. Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald, Rebecca Holman, Johanna H. Lee, Eileen P. Treacy, Annet M. Bosch

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

Editor
 
 
 
 
 
Publisher
Springer
Publication year
2017
Language
en
Edition
1
Series
JIMD Reports
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783662563595
Printed ISBN
978-3-662-56358-8

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