JIMD Reports - Case and Research Reports, 2012/6

1. Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency
Elsebet Ostergaard, Morten Duno, Lisbeth Birk Møller, H. Serap Kalkanoglu-Sivri, Ali Dursun, Didem Aliefendioglu, Helle Leth, Marianne Dahl, Ernst Christensen, Flemming Wibrand

2. Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease
Marina Siebert, Hugo Bock, Kristiane Michelin-Tirelli, Janice C. Coelho, Roberto Giugliani, Maria Luiza Saraiva-Pereira

3. Prevalence and Development of Orthopaedic Symptoms in the Dutch Hurler Patient Population after Haematopoietic Stem Cell Transplantation
F. J. Stoop, M. C. Kruyt, M. H. Linden, R. J. B. Sakkers, P. M. Hasselt, R. M. C. Castelein

4. Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH4)
A. G. Thiele, J. F. Weigel, B. Ziesch, C. Rohde, U. Mütze, U. Ceglarek, J. Thiery, A. S. Müller, W. Kiess, S. Beblo

5. Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease
A. Pisani, L. Spinelli, B. Visciano, I. Capuano, M. Sabbatini, E. Riccio, G. Messalli, M. Imbriaco

6. Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S
Maja Djordjevic, Kristel Klaassen, Adrijan Sarajlija, Natasa Tosic, Branka Zukic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic

7. Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients
Riffat Aslam, Annelotte C. M. Bommel, Christian J. Hendriksz, Andrea Jester

8. Ceftriaxone for Alexander’s Disease: A Four-Year Follow-Up
GianPietro Sechi, Isabella Ceccherini, Tiziana Bachetti, Giovanni A. Deiana, Elia Sechi, Pietro Balbi

9. Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

N. Ramanathan, M. Ahmed, E. Raffan, C. L. Stewart, S. O’Rahilly, R. K. Semple, H. Raef, J. J. Rochford

10. The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
M. C. Tchan, B. Wilcken, J. Christodoulou

11. Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene
Talita E R Adelino, Gustavo G Martins, Aretta A A Gomes, Adriana A Torres, Daniel A S Silva, Vinícius D O Xavier, João Paulo O Guimarães, Sérgio S S Araújo, Rachel A F Fernandes, Maria Christina L A Oliveira, Ana Lúcia B Godard, Eugênia R Valadares

12. A Young Adult with Sarcosinemia. No Benefit from Long Duration Treatment with Memantine
A. Benarrosh, R. Garnotel, A. Henry, C. Arndt, P. Gillery, J. Motte, S. Bakchine

13. Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation
S. Rodney, A. Boneh

14. Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I Melegh, Béla Melegh, Mária Ablonczy, Krisztina Németh, György Fekete

15. Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy
Gerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, Alfonso Romano, Generoso Andria, Ennio Giudice

16. Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process
E. J. Langereis, I. E. T. Berg, D. J. J. Halley, B. J. H. M. Poorthuis, F. M. Vaz, J. H. J. Wokke, G. E. Linthorst

17. Case Report of Argininemia: The Utility of the Arginine/Ornithine Ratio for Newborn Screening (NBS)
Allison Jay, Mary Seeterlin, Eleanor Stanley, Robert Grier

18. Leptin Levels in Children and Adults with Classic Galactosaemia
Ina Knerr, Karen P. Coss, Peter P. Doran, Joanne Hughes, Nick Wareham, Keith Burling, Eileen P. Treacy

19. CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy
Hamoud H. Al Khallaf, Jennifer Propst, Serge Geffrard, Eleanor Botha, M. Ali Pervaiz

20. Partial Pyridoxine Responsiveness in PNPO Deficiency
Phillip L. Pearl, Keith Hyland, J Chiles, Colleen L McGavin, Yuezhou Yu, Donald Taylor

21. Erratum to: Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNASer(UCN) and Review of Published Cases
Katalin Komlósi, Anita Maász, Péter Kisfali, Kinga Hadzsiev, Judit Bene, Béla I. Melegh, Mária Ablonczy, Krisztina Németh, György Fekete, Béla Melegh

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