JIMD Reports - Case and Research Reports, 2011/2

1. Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene
Ariadna González-del Angel, José Velázquez-Aragón, Miguel A. Alcántara-Ortigoza, Marcela Vela-Amieva, Nancy Hernández-Martínez

2. Cardiac Arrest in Kearns–Sayre Syndrome
Ingrid Beynum, Eva Morava, Marjan Taher, Richard J. Rodenburg, Judit Karteszi, Kalman Toth, Eszter Szabados

3. Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report
Josko Markic, Branka Polic, Radenka Kuzmanic-Samija, Eugenija Marusic, Luka Stricevic, Vitomir Metlicic, Julije Mestrovic

4. Carpal Tunnel Syndrome in Fabry Disease
Joanna Ghali, Anand Murugasu, Timothy Day, Kathy Nicholls

5. A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene
M. Kilic, M. Taskesen, T. Coskun, F. Gürakan, A. Tokatli, H. S. Sivri, A. Dursun, S. Schmitt, S. Küry

6. Onset of Adreno-Leukodystrophy After Medulloblastoma Therapy: Causal Connection or Coincidence?
G. Deib, A. Poretti, A. Meoded, K. J. Cohen, G. V. Raymond, M. Abromowitch, T. A. G. M. Huisman

7. Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome
Anne Laure Sellier, Philippe Labrune, Theresa Kwon, Alix Mollet Boudjemline, Georges Deschènes, Vincent Gajdos

8. Treatment with Lactose (Galactose)-Restricted and Medium-Chain Triglyceride-Supplemented Formula for Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
K. Hayasaka, C. Numakura, K. Toyota, T. Kimura

9. Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia
Matthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer

10. The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder
Alison James, Christian J Hendriksz, Owen Addison

11. Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking
Stefania Zampieri, Bruno Bembi, Natalia Rosso, Mirella Filocamo, Andrea Dardis

12. 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Identification of a New Mutation Causing Hyperinsulinemic Hypoketotic Hypoglycemia, Altered Organic Acids and Acylcarnitines Concentrations
Florina Ion Popa, Silvia Perlini, Francesca Teofoli, Daniela Degani, Silvia Funghini, Giancarlo Marca, Piero Rinaldo, Monica Vincenzi, Franco Antoniazzi, Attilio Boner, Marta Camilot

13. Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia
K. Joost, K. Õunap, R. Žordania, M.-L. Uudelepp, R. K. Olsen, K. Kall, K. Kilk, U. Soomets, T. Kahre

14. Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report
Irene Biase, Neena Lorenzana Champaigne, Richard Schroer, Laura Malinda Pollard, Nicola Longo, Tim Wood

15. Long-Term Pharmacological Management of Phenylketonuria, Including Patients Below the Age of 4 Years
M L Couce, M D Bóveda, E Valerio, A Pérez-Muñuzuri, J M Fraga

16. Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients
Sébastien Lévesque, Marie Lambert, Aspasia Karalis, Serge Melancon, Laura Russell, Nancy Braverman

17. Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI
D Sillence, K Waters, S Donaldson, P J Shaw, C Ellaway

18. Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping
Faiqa Imtiaz, Abeer Al-Mostafa, Zuhair N. Al-Hassnan

19. Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience
Annika Ohlsson, Claes Guthenberg, Ulrika Döbeln

20. Efficacy of Vigabatrin Intervention in a Mild Phenotypic Expression of Succinic Semialdehyde Dehydrogenase Deficiency
M. Casarano, M G. Alessandrì, G. S. Salomons, E. Moretti, C. Jakobs, K. M. Gibson, G. Cioni, R. Battini

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