JIMD Reports - Case and Research Reports, 2012/3

 - JIMD Reports - Case and Research Reports, 2012/3, ebook


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ISBN: 9783642281297
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Table of contents

1. Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis
Sachiko Nakagawa, Jie Zhan, Wei Sun, Jose Carlos Ferreira, Steven Keiles, Tina Hambuch, Anja Kammesheidt, Brian L. Mark, Adele Schneider, Susan Gross, Nicole Schreiber-Agus

2. A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency
Monique Fontaine, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere, Michèle Brivet, Audrey Boutron, Mokhtar Zater, Karine Mention-Mulliez, Annie Martin-Ponthieu, Christine Vianey-Saban, Gilbert Briand, Nicole Porchet, Joseph Vamecq

3. Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome
Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Calcar, Susan Heighway, Heather Bankowski, Phillip Williams, Gregory Rice

4. Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings
Hye-Sook Chang, Takako Shibata, Satoshi Arai, Chunhua Zhang, Akira Yabuki, Sawane Mitani, Takashi Higo, Kazuhiro Sunagawa, Keijiro Mizukami, Osamu Yamato

5. Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection
Laura E. Laróvere, Silene M. Silvera Ruiz, Celia J. Angaroni, Raquel Dodelson Kremer

6. Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance
Lorenzo Ferri, Anna Caciotti, Catia Cavicchi, Miriam Rigoldi, Rossella Parini, Marina Caserta, Guido Chibbaro, Serena Gasperini, Elena Procopio, Maria Alice Donati, Renzo Guerrini, Amelia Morrone

7. Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells Provide Enzyme to Residual Enzyme-Deficient Recipient Cells
Vikramajit Singh

8. Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations
Andrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse, Hans Waterham, Ronald Wanders, Enrico Bertini, Maria Teresa Dotti, Antonio Federico

D-Serine Influences Synaptogenesis in a P19 Cell Model
Sabine A. Fuchs, Martin W. Roeleveld, Leo W. J. Klomp, Ruud Berger, Tom J. Koning

10. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
Mei-Ying Liu, Tze-Tze Liu, Yang-Ling Yang, Ying-Chen Chang, Ya-Ling Fan, Shu-Fen Lee, Yu-Ting Teng, Szu-Hui Chiang, Dau-Ming Niu, Shio-Jean Lin, Mei-Chun Chao, Shuan-Pei Lin, Lian-Shu Han, Yu Qi, Kwang-Jen Hsiao

11. Cardiac Pathology in Glycogen Storage Disease Type III
S. L. Austin, A. D. Proia, M. J. Spencer-Manzon, J. Butany, S. B. Wechsler, P. S. Kishnani

12. Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides
E Martín-Hernández, P Quijada-Fraile, L Oliveros-Leal, MT García-Silva, C Pérez-Cerdá, M Baro-Fernández, V Pérez-Alonso, JL Vivanco

13. Newborn Screening for Inborn Errors of Metabolism in Mainland China: 30 Years of Experience
Xiao-Tong Shi, Juan Cai, Yuan-Yu Wang, Wen-Jun Tu, Wei-Peng Wang, Li-Ming Gong, Dao-Wen Wang, Yin-Tao Ye, Shao-Guang Fang, Peng-Wei Jing

14. Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss
Greet Noorda, Theo Achterberg, Truus Hooft, Jan Smeitink, Lisette Schoonhoven, Baziel Engelen

15. The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy
Monique G. M. Velden, Piero Rinaldo, Bert Elvers, Mick Henderson, John H Walter, Berthil H. C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Tom J. Koning, Peter Hasselt

16. Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease
R. Cheung, D. O. Sillence, M. C. Tchan

17. Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands
E Martins, A Marcão, A Bandeira, H Fonseca, C Nogueira, L Vilarinho

18. Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening
U. Spiekerkoetter, M. Mueller, M. Sturm, M. Hofmann, D. T. Schneider

19. Newborn Screening for Lysosomal Storage Disorders in Hungary
Judit Wittmann, Eszter Karg, Sàndor Turi, Elisa Legnini, Gyula Wittmann, Anne-Katrin Giese, Jan Lukas, Uta Gölnitz, Michael Klingenhäger, Olaf Bodamer, Adolf Mühl, Arndt Rolfs

20. Successful Weight Loss in Two Adult Patients Diagnosed with Late-Onset Long-Chain Fatty Acid Oxidation Defect
H. Zweers, C. Timmer, E. Rasmussen, M. Heijer, H. Valk

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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