Baumgartner, Matthias

JIMD Reports, Volume 36

Baumgartner, Matthias - JIMD Reports, Volume 36, ebook


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ISBN: 9783662561386
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Table of contents

1. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
Grace Stuhrman, Stefanie J. Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava

2. Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach
Saskia Koene, Ilse Dirks, Esmee Mierlo, Pascal R. Vries, Anjo J. W. M. Janssen, Jan A. M. Smeitink, Arjen Bergsma, Hans Essers, Kenneth Meijer, Imelda J. M. Groot

3. Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C
Alberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, Valeria Bertasi, Marinella Turla, Ettore Salsano, Andrea Dardis, Alessandro Padovani, Barbara Borroni

4. Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund

5. Primary Carnitine Deficiency: Is Foetal Development Affected and Can Newborn Screening Be Improved?
Jan Rasmussen, David M. Hougaard, Noreen Sandhu, Katrine Fjællegaard, Poula R. Petersen, Ulrike Steuerwald, Allan M. Lund

6. The Spectrum of Niemann-Pick Type C Disease in Greece
Irene Mavridou, Evangelia Dimitriou, Marie T. Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis

7. What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?
Esther Dam, Anne Daly, Gineke Venema-Liefaard, Margreet Rijn, Terry G. J. Derks, Patrick J. McKiernan, M. Rebecca Heiner-Fokkema, Anita MacDonald, Francjan J. Spronsen

8. A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica
Tanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, Arif Ekici, Steffen Uebe, André Reis, Alejandro Leal

9. Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency
Kathryn E. Coakley, Eric I. Felner, Vin Tangpricha, Peter W. F. Wilson, Rani H. Singh

10. Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1
Evelyn M. Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L. Metzger, Sandra Sirrs

11. Widespread Expression of a Membrane-Tethered Version of the Soluble Lysosomal Enzyme Palmitoyl Protein Thioesterase-1
Charles Shyng, Shannon L. Macauley, Joshua T. Dearborn, Mark S. Sands

12. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency
S. S. Johansen, X. Wang, D. Sejer Pedersen, P. L. Pearl, J.-B. Roullet, G. R. Ainslie, K. R. Vogel, K. M. Gibson

13. An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom
Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C. Rees, Penelope Stein, Julian Barth, M. Felicity Stewart, Michael Badminton

14. Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific Physiopathology
Gustavo Monteiro Viana, Cinthia Castro Nascimento, Edgar Julian Paredes-Gamero, Vânia D’Almeida

15. Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency
Patrick Ferreira, Alicia Chan, Barry Wolf

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

Publication year
JIMD Reports
Medicine, Health Care, Mode
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