Research challenges in central nervous system manifestations of inborn errors of metabolism.

[1]  S. Kaler,et al.  Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain , 2010, American journal of medical genetics. Part A.

[2]  T. Ferguson,et al.  Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. , 2010, American journal of human genetics.

[3]  Daniel J. Guillaume,et al.  131. CNS transplantation of purified human neural stem cells in infantile and late-infantile neuronal ceroid lipofuscinoses: Summary of the Phase I trial , 2010 .

[4]  Hye-Seung Lee,et al.  Intellectual, Adaptive, and Behavioral Functioning in Children With Urea Cycle Disorders , 2009, Pediatric Research.

[5]  B. Bigger,et al.  Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. , 2009, The Journal of pediatrics.

[6]  Daniel J. Guillaume,et al.  A study of intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis I , 2009 .

[7]  D. Rapoport,et al.  Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I , 2009, Pediatrics.

[8]  M. Mcentee,et al.  Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. , 2008, The Journal of clinical investigation.

[9]  T. D. de Koning,et al.  The clinical outcome of Hurler syndrome after stem cell transplantation. , 2008, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[10]  J. Tolar,et al.  Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome , 2008, Bone Marrow Transplantation.

[11]  D. Goldstein,et al.  Neonatal diagnosis and treatment of Menkes disease. , 2008, The New England journal of medicine.

[12]  K. Thomas,et al.  89. Neuropsychological function and neuroimaging in severe and attenuated mucopolysaccharidosis , 2008 .

[13]  Leonard E White,et al.  Diffusion tensor imaging assessment of brain white matter maturation during the first postnatal year. , 2007, AJR. American journal of roentgenology.

[14]  A. Fischer,et al.  Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure , 2007, Bone Marrow Transplantation.

[15]  S. Kaler,et al.  Safety of intracerebroventricular copper histidine in adult rats. , 2007, Molecular genetics and metabolism.

[16]  G. Dawson,et al.  Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future. , 2006, Biochimica et biophysica acta.

[17]  Kumanan Wilson,et al.  Barriers to participation in clinical trials of cancer: a meta-analysis and systematic review of patient-reported factors. , 2006, The Lancet. Oncology.

[18]  S. Kaler,et al.  Copper‐replacement treatment for symptomatic Menkes disease: ethical considerations , 2005, Clinical genetics.

[19]  J. Mink,et al.  A clinical rating scale for Batten disease , 2005, Neurology.

[20]  J. Provenzale,et al.  Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. , 2005, Radiology.

[21]  M. Poe,et al.  Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. , 2005, The New England journal of medicine.

[22]  H. Moser,et al.  Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. , 2004, Blood.

[23]  M. Poe,et al.  Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. , 2004, The New England journal of medicine.

[24]  Joseph Muenzer,et al.  Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). , 2004, The Journal of pediatrics.

[25]  A. Gropman,et al.  Cognitive outcome in urea cycle disorders. , 2004, Molecular genetics and metabolism.

[26]  J. Provenzale,et al.  Evaluation of normal age-related changes in anisotropy during infancy and childhood as shown by diffusion tensor imaging. , 2002, AJR. American journal of roentgenology.

[27]  J. Petrella,et al.  Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. , 2001, Radiology.

[28]  H. Moser,et al.  X-Linked Adrenoleukodystrophy: Overview and Prognosis as a Function of Age and Brain Magnetic Resonance Imaging Abnormality. A Study Involving 372 Patients , 2000, Neuropediatrics.

[29]  E. Costantino-Ceccarini,et al.  Krabbe disease: genetic aspects and progress toward therapy. , 2000, Molecular genetics and metabolism.

[30]  D. Loes,et al.  Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method. , 1999, AJNR. American journal of neuroradiology.

[31]  J. Wagner,et al.  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, Blood.

[32]  L. Lockman,et al.  Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation , 1995, Journal of Inherited Metabolic Disease.

[33]  L. Lockman,et al.  The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome , 1995, Journal of Inherited Metabolic Disease.

[34]  D. Goldstein,et al.  Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus , 1994, Nature Genetics.

[35]  H. Moser,et al.  Adrenoleukodystrophy: a scoring method for brain MR observations. , 1994, AJNR. American journal of neuroradiology.

[36]  C. Summers,et al.  Long-term outcome of Hurler syndrome following bone marrow transplantation. , 1993, American journal of medical genetics.

[37]  S. Kaler,et al.  ATP7A-related copper transport diseases—emerging concepts and future trends , 2011, Nature Reviews Neurology.

[38]  S. Kaler Small Molecule Therapy for Genetic Disease: Small copper complexes for treatment of acquired and inherited copper deficiency syndromes , 2010 .

[39]  Marshall Summar,et al.  Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. , 2010, Molecular genetics and metabolism.

[40]  J. Thoene Small Molecule Therapy for Genetic Disease: Frontmatter , 2010 .

[41]  J. Tolar,et al.  Transplant outcomes in leukodystrophies. , 2010, Seminars in hematology.

[42]  Peter A Merkel,et al.  Clinical research for rare disease: opportunities, challenges, and solutions. , 2009, Molecular genetics and metabolism.

[43]  M. Poe,et al.  Correlation of neurodevelopmental features and MRI findings in infantile Krabbe's disease. , 2009, AJR. American journal of roentgenology.

[44]  H. Moser,et al.  Sensorimotor function and axonal integrity in adrenomyeloneuropathy. , 2006, Archives of neurology.