JIMD Reports - JIMD Reports - Case and Research Reports, 2011/2
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20
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Published By Springer Berlin Heidelberg

9783642247576, 9783642247583
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scholarly journals Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report

2011 ◽  
pp. 87-90 ◽  
Author(s):  
Irene De Biase ◽  
Neena Lorenzana Champaigne ◽  
Richard Schroer ◽  
Laura Malinda Pollard ◽  
Nicola Longo ◽  
...  
Keyword(s):  
Case Report ◽  
Long Qt Syndrome ◽  
Carnitine Deficiency ◽  
Long Qt ◽  
Qt Syndrome ◽  
Primary Carnitine Deficiency

scholarly journals Successful Plasmapheresis for Acute and Severe Unconjugated Hyperbilirubinemia in a Child with Crigler Najjar Type I Syndrome

2011 ◽  
pp. 33-36 ◽  
Author(s):  
Anne Laure Sellier ◽  
Philippe Labrune ◽  
Theresa Kwon ◽  
Alix Mollet Boudjemline ◽  
Georges Deschènes ◽  
...  
Keyword(s):  
Type I ◽  
Unconjugated Hyperbilirubinemia

scholarly journals Cardiac Arrest in Kearns–Sayre Syndrome

2011 ◽  
pp. 7-10 ◽  
Author(s):  
Ingrid van Beynum ◽  
Eva Morava ◽  
Marjan Taher ◽  
Richard J. Rodenburg ◽  
Judit Karteszi ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Kearns Sayre Syndrome

scholarly journals Short-Term Outcome of Propionic Aciduria Treated at Presentation with N-Carbamylglutamate: A Retrospective Review of Four Patients

2011 ◽  
pp. 97-102 ◽  
Author(s):  
Sébastien Lévesque ◽  
Marie Lambert ◽  
Aspasia Karalis ◽  
Serge Melancon ◽  
Laura Russell ◽  
...  
Keyword(s):  
Retrospective Review ◽  
Short Term ◽  
Term Outcome ◽  
Propionic Aciduria ◽  
Short Term Outcome

scholarly journals Phenotype–Genotype Discrepancy Due to a 5.5-kb Deletion in the GALT Gene

2011 ◽  
pp. 1-5
Author(s):  
Ariadna González-del Angel ◽  
José Velázquez-Aragón ◽  
Miguel A. Alcántara-Ortigoza ◽  
Marcela Vela-Amieva ◽  
Nancy Hernández-Martínez
Keyword(s):  
Galt Gene

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

2011 ◽  
pp. 113-117 ◽  
Author(s):  
Annika Ohlsson ◽  
Claes Guthenberg ◽  
Ulrika von Döbeln
Keyword(s):  
False Positive ◽  
Recall Rate ◽  
Swedish Experience

scholarly journals Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking

2011 ◽  
pp. 59-69 ◽  
Author(s):  
Stefania Zampieri ◽  
Bruno Bembi ◽  
Natalia Rosso ◽  
Mirella Filocamo ◽  
Andrea Dardis
Keyword(s):  
Human Fibroblasts ◽  
Missense Mutations ◽  
Cholesterol Trafficking ◽  
Intracellular Cholesterol
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