Literature DB >> 18206704

Bone marrow transplantation in glycogen storage disease type 1b.

Germaine Pierre1, Geothy Chakupurakal, Patrick McKiernan, Chris Hendriksz, Sarah Lawson, Anupam Chakrapani.   

Abstract

We report a case of glycogen storage disease type 1b that was successfully treated with bone marrow transplantation after life-threatening complications related to neutropenia and thrombocytopenia. Concomitant reduction in inflammatory bowel disease-related symptoms and improved metabolic stability were also observed.

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Year:  2008        PMID： 18206704     DOI： 10.1016/j.jpeds.2007.09.031

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  13 in total

Review 1.  Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  Nat Rev Endocrinol       Date:  2010-10-26       Impact factor: 43.330

Review 2.  Recombinant AAV-directed gene therapy for type I glycogen storage diseases.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Expert Opin Biol Ther       Date:  2011-04-20       Impact factor: 4.388

Review 3.  Inborn errors of metabolism underlying primary immunodeficiencies.

Authors:  Nima Parvaneh; Pierre Quartier; Parastoo Rostami; Jean-Laurent Casanova; Pascale de Lonlay
Journal:  J Clin Immunol       Date:  2014-08-01       Impact factor: 8.317

Review 4.  The SLC37 family of phosphate-linked sugar phosphate antiporters.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  Mol Aspects Med       Date:  2013 Apr-Jun

Review 5.  Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.

Authors:  Janice Y Chou; Hyun Sik Jun; Brian C Mansfield
Journal:  J Inherit Metab Dis       Date:  2014-10-07       Impact factor: 4.982

Review 6.  Neutropenia in type Ib glycogen storage disease.

Authors:  Janice Y Chou; Hyun S Jun; Brian C Mansfield
Journal:  Curr Opin Hematol       Date:  2010-01       Impact factor: 3.284

Review 7.  Neutropenia in primary immunodeficiency.

Authors:  Robert Sokolic
Journal:  Curr Opin Hematol       Date:  2013-01       Impact factor: 3.284

8.  The natural history of glycogen storage disease type Ib in England: A multisite survey.

Authors:  Rebecca Halligan; Fiona J White; Bernd Schwahn; Karolina M Stepien; Nazreen Kamarus Jaman; Mel McSweeney; Steve Kitchen; Joanna Gribben; Charlotte Dawson; Katherine Lewis; David Cregeen; Helen Mundy; Saikat Santra
Journal:  JIMD Rep       Date:  2021-01-24

Review 9.  Glucose-6-phosphatase deficiency.

Authors:  Roseline Froissart; Monique Piraud; Alix Mollet Boudjemline; Christine Vianey-Saban; François Petit; Aurélie Hubert-Buron; Pascale Trioche Eberschweiler; Vincent Gajdos; Philippe Labrune
Journal:  Orphanet J Rare Dis       Date:  2011-05-20       Impact factor: 4.123

10.  Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

Authors:  Kyung Jae Lee; Shin Jie Choi; Woo Sun Kim; Sung-Sup Park; Jin Soo Moon; Jae Sung Ko
Journal:  Pediatr Gastroenterol Hepatol Nutr       Date:  2016-03-22
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