JIMD Reports - Case and Research Reports, 2012/3

1. Front Matter

   Pages i-vii

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2. 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 et al.

   Pages 1-6

3. A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

   • Monique Fontaine, Anne-Frédérique Dessein, Claire Douillard, Dries Dobbelaere, Michèle Brivet, Audrey Boutron et al.

   Pages 7-14

4. Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome

   • Jessica A. Scott Schwoerer, Lisa Obernolte, Sandra Van Calcar, Susan Heighway, Heather Bankowski, Phillip Williams et al.

   Pages 15-20

5. 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 et al.

   Pages 21-26

6. 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 de Kremer

   Pages 27-29

7. 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 et al.

   Pages 31-37

8. 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

   Pages 39-42

9. Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

   • Andrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse, Hans Waterham, Ronald Wanders et al.

   Pages 43-46

10. D-Serine Influences Synaptogenesis in a P19 Cell Model

    • Sabine A. Fuchs, Martin W. Roeleveld, Leo W. J. Klomp, Ruud Berger, Tom J. de Koning

    Pages 47-53

11. 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 et al.

    Pages 55-64

12. 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

    Pages 65-72

13. 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 et al.

    Pages 73-78

14. 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 et al.

    Pages 79-83

15. Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

    • Greet Noorda, Theo van Achterberg, Truus van der Hooft, Jan Smeitink, Lisette Schoonhoven, Baziel van Engelen

    Pages 85-94

16. The Proline/Citrulline Ratio as a Biomarker for OAT Deficiency in Early Infancy

    • Monique G. M. de Sain-van der Velden, Piero Rinaldo, Bert Elvers, Mick Henderson, John H Walter, Berthil H. C. M. T. Prinsen et al.

    Pages 95-99

17. Homocysteine and Erythrocyte Sedimentation Rate Correlate with Cerebrovascular Disease in Fabry Disease

    • R. Cheung, D. O. Sillence, M. C. Tchan

    Pages 101-105

18. 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

    Pages 107-112

19. 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

    Pages 113-115

20. Newborn Screening for Lysosomal Storage Disorders in Hungary

    • Judit Wittmann, Eszter Karg, Sàndor Turi, Elisa Legnini, Gyula Wittmann, Anne-Katrin Giese et al.

    Pages 117-125

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

• endocrinology
• inherited metabolic diseases
• medical genetics
• pediatrics
• metabolic disease

• c/o ACB, London, United Kingdom

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