JIMD Reports - Case and Research Reports, 2011/2

Front Matter

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

Cardiac Arrest in Kearns–Sayre Syndrome

• Ingrid van Beynum, Eva Morava, Marjan Taher, Richard J. Rodenburg, Judit Karteszi, Kalman Toth et al.

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 et al.

Carpal Tunnel Syndrome in Fabry Disease

• Joanna Ghali, Anand Murugasu, Timothy Day, Kathy Nicholls

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 et al.

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 et al.

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

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

Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia

• Matthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer

The Oral Health Needs of Children, Adolescents and Young Adults Affected by a Mucopolysaccharide Disorder

• Alison James, Christian J Hendriksz, Owen Addison

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

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 La Marca et al.

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 et al.

Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

• Irene De Biase, Neena Lorenzana Champaigne, Richard Schroer, Laura Malinda Pollard, Nicola Longo, Tim Wood

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

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

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

• D Sillence, K Waters, S Donaldson, P J Shaw, C Ellaway

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

Galactosemia Screening with Low False-Positive Recall Rate: The Swedish Experience

• Annika Ohlsson, Claes Guthenberg, Ulrika von Döbeln