JIMD Reports - Case and Research Reports, 2011/2

1. Front Matter

   Pages i-vii

   PDF

2. 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

   Pages 1-5

3. Cardiac Arrest in Kearns–Sayre Syndrome

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

   Pages 7-10

4. 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.

   Pages 11-15

5. Carpal Tunnel Syndrome in Fabry Disease

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

   Pages 17-23

6. 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.

   Pages 25-28

7. 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.

   Pages 29-32

8. 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

   Pages 33-36

9. 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

   Pages 37-44

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

    • Matthias Gautschi, Mladen Pavlovic, Jean-Marc Nuoffer

    Pages 45-50

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

    • Alison James, Christian J Hendriksz, Owen Addison

    Pages 51-58

12. 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

    Pages 59-69

13. 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.

    Pages 71-77

14. 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.

    Pages 79-85

15. 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

    Pages 87-90

16. 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

    Pages 91-96

17. 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

    Pages 97-102

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

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

    Pages 103-106

19. 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

    Pages 107-111

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

    • Annika Ohlsson, Claes Guthenberg, Ulrika von Döbeln

    Pages 113-117

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

From the reviews:

“This is a collection of case reports and short research reports regarding various inborn errors of metabolism with a focus on new or unusual features, outcomes of therapy, or screening. … the book is designed for highly specialized practitioners in the field of genetics or metabolic disorders. … The book does fulfill its purpose, but the audience is … geneticists and those specializing in each of these rare disorders.” (Christine Yu, Doody’s Review Service, March, 2012)

• c/o ACB, London, United Kingdom

  SSIEM

Policies and ethics