Research challenges in central nervous system manifestations of inborn errors of metabolism
- 31 March 2011
- journal article
- review article
- Published by Elsevier BV in Molecular Genetics and Metabolism
- Vol. 102 (3), 326-338
- https://doi.org/10.1016/j.ymgme.2010.11.164
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Transplantation of Umbilical-Cord Blood in Babies with Infantile Krabbe's DiseaseThe New England Journal of Medicine, 2005
- Cord-Blood Transplants from Unrelated Donors in Patients with Hurler's SyndromeThe New England Journal of Medicine, 2004
- Krabbe Disease: Genetic Aspects and Progress toward TherapyMolecular Genetics and Metabolism, 2000
- Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method1999
- Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group.1998
- Neuropsychological outcomes of several storage diseases with and without bone marrow transplantationJournal of Inherited Metabolic Disease, 1995
- The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndromeJournal of Inherited Metabolic Disease, 1995
- Adrenoleukodystrophy: a scoring method for brain MR observations.1994
- Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locusNature Genetics, 1994
- Long‐term outcome of Hurler syndrome following bone marrow transplantationAmerican Journal of Medical Genetics, 1993