Zschocke, Johannes

JIMD Reports - Case and Research Reports, 2012/5

Zschocke, Johannes - JIMD Reports - Case and Research Reports, 2012/5, ebook


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Table of contents

1. The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity
Cosima Rhein, Julia Naumann, Christiane Mühle, Peter Zill, Mazda Adli, Ulrich Hegerl, Christoph Hiemke, Roland Mergl, Hans-Jürgen Möller, Martin Reichel, Johannes Kornhuber

2. The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
Waseem Fathalla, Elamin Ahmed

3. A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine
Pankaj Garg, Kevin Carpenter, Shanley Chong, John Christodoulou

4. ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
M. Dercksen, A. C. Crutchley, E. M. Honey, M. M. Lippert, G. Matthijs, L. J. Mienie, H. C. Schuman, B. C. Vorster, J. Jaeken

5. Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?
A. Brambilla, A. Pozzoli, F. Furlan, R. Parini

6. A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders
Stefanie Kung, Mark Walters, Peter Claes, Jack Goldblatt, Peter Souef, Gareth Baynam

7. Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease
Graeme K Ambler, Matthew Hoare, Rebecca Brais, Ashley Shaw, Andrew Butler, Paul Flynn, Patrick Deegan, William J H Griffiths

8. Inheritance of the m.3243A>G mutation
Paul Laat, Saskia Koene, Lambert P. W. J. vd Heuvel, Richard J. T. Rodenburg, Mirian C. H. Janssen, Jan A. M. Smeitink

9. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage
Gabor E. Linthorst, Alessandro P. Burlina, Franco Cecchi, Timothy M. Cox, Janice M. Fletcher, Ulla Feldt-Rasmussen, Roberto Giugliani, Carla E. M. Hollak, Gunnar Houge, Derralynn Hughes, Iikka Kantola, Robin Lachmann, Monica Lopez, Alberto Ortiz, Rossella Parini, Alberto Rivera, Arndt Rolfs, Uma Ramaswami, Einar Svarstad, Camilla Tondel, Anna Tylki-Szymanska, Bojan Vujkovac, Steven Waldek, Michael West, F. Weidemann, Atul Mehta

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
Daniel Palanca, Angels Garcia-Cazorla, Jessica Ortiz, Cristina Jou, Victoria Cusí, Mariona Suñol, Teresa Toll, Belén Perez, Aida Ormazabal, Brian Fowler, Rafael Artuch

11. Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs
Moin Vera, Thomas Lester, Bin Zhao, Pascale Tiger, Scott Clarke, Brigette L. Tippin, Merry B. Passage, Steven Q. Le, Javier Femenia, Jeffrey F. Lemontt, Emil D. Kakkis, Patricia I. Dickson

12. Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease
T. Litwin, G. Gromadzka, J. Samochowiec, A. Grzywacz, A. Członkowski, A. Członkowska

13. Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
C. Bieneck Haglind, M. Halldin Stenlid, S. Ask, J. Alm, A. Nemeth, Uv. Döbeln, A. Nordenström

14. Fabry Disease in Latin America: Data from the Fabry Registry
J. Villalobos, J. M. Politei, A. M. Martins, G. Cabrera, H. Amartino, R. Lemay, S. Ospina, S. Suarez Ordoñez, C. Varas

15. Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT
W. Terryn, R. Vanholder, D. Hemelsoet, B. P. Leroy, W. Biesen, G. Schoenmakere, B. Wuyts, K. Claes, J. Backer, G. Paepe, A. Fogo, M. Praet, B. Poppe

16. A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria
Mary Lou Lindegren, Shanthi Krishnaswami, Tyler Reimschisel, Christopher Fonnesbeck, Nila A. Sathe, Melissa L. McPheeters

17. Neonatal Bone Marrow Transplantation in MPS IIIA Mice
Adeline A Lau, N. Jannah Shamsani, Leanne K. Winner, Sofia Hassiotis, Barbara M. King, John J. Hopwood, Kim M. Hemsley

18. Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency
Elena Vanadia, K. Michael Gibson, Phillip L. Pearl, Emanuele Trapolino, Salvatore Mangano, Francesca Vanadia

19. Barriers to Transplantation in Adults with Inborn Errors of Metabolism
S. M. Sirrs, H. Faghfoury, E. M. Yoshida, T. Geberhiwot

20. Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

R. Zeevaert, F. Zegher, L. Sturiale, D. Garozzo, M. Smet, M. Moens, G. Matthijs, J. Jaeken

Keywords: Biomedicine, Human Genetics, Metabolic Diseases, Pediatrics, Human Physiology

Publication year
JIMD Reports
Page amount
7 pages
Medicine, Health Care, Mode

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