Leukoencephalopathies associated with inborn errors of metabolism in adults
暂无分享,去创建一个
N. Baumann | F. Sedel | B. Fontaine | J. Saudubray | A. Tourbah | C. Lubetzki | O. Lyon‐Caen | Frédéric Sedel | J. Saudubray | Bertrand Fontaine | Olivier Lyon-Caen | Catherine Lubetzki
[1] D. Birchall,et al. PRIMARY SPINAL CORD NEURODEGENERATION IN LEBER HEREDITARY OPTIC NEUROPATHY , 2007, Neurology.
[2] J. Mandel,et al. Adrénoleucodystrophie liée à l'X , 2007 .
[3] H. Moser,et al. Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. , 2007, Archives of neurology.
[4] F. Sedel,et al. Therapy Insight: inborn errors of metabolism in adult neurology—a clinical approach focused on treatable diseases , 2007, Nature Clinical Practice Neurology.
[5] Y. Hasegawa,et al. 3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset , 2006, Neurology.
[6] J. Finsterer. Central nervous system manifestations of mitochondrial disorders , 2006, Acta neurologica Scandinavica.
[7] R. Wevers,et al. Presenile cataract: consider cholestanol. , 2006, Archives of ophthalmology.
[8] H. Moser,et al. Late-onset metachromatic leukodystrophy , 2006, Neurology.
[9] D. Shera,et al. Mild‐onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene , 2006, Annals of neurology.
[10] E. Merritt,et al. Ribose 5-phosphate isomerase from Plasmodium falciparum , 2005 .
[11] B. Fontaine,et al. Leucoencéphalopathies génétiques de l’adulte , 2005 .
[12] J. Fink,et al. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. , 2005, Archives of neurology.
[13] Matthias J. Müller,et al. White matter lesion severity in male and female patients with Fabry disease , 2005, Neurology.
[14] I. Harting,et al. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency , 2005, Neurology.
[15] R. Surtees,et al. Disorders of intermediary metabolism: Toxic leukoencephalopathies , 2005, Journal of Inherited Metabolic Disease.
[16] J. Kramer,et al. Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment , 2005, Neurology.
[17] E. Leshinsky‐Silver,et al. White matter involvement in mitochondrial diseases. , 2005, Molecular genetics and metabolism.
[18] T. Nägele,et al. 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency in an adult with leukoencephalopathy , 2004, Annals of neurology.
[19] M. Okun,et al. Dystonia, tremor, and parkinsonism in a 54 year old man with 2-hydroxyglutaric aciduria , 2004, Journal of Neurology, Neurosurgery & Psychiatry.
[20] Arend Heerschap,et al. MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy. , 2004, AJNR. American journal of neuroradiology.
[21] M. S. van der Knaap,et al. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. , 2004, American journal of human genetics.
[22] R. Schiffmann,et al. The latest on leukodystrophies , 2004, Current opinion in neurology.
[23] J. Leonard,et al. Biotinidase Deficiency: a Treatable Leukoencephalopathy , 2004, Neuropediatrics.
[24] Giovanni Cioni,et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. , 2003, AJNR. American journal of neuroradiology.
[25] R. Henderson,et al. Adult onset Krabbe disease may mimic motor neurone disease , 2003, Journal of Clinical Neuroscience.
[26] F. Viader,et al. [Gait disorders with insidious progression in a 60-year old woman]. , 2003, Revue neurologique.
[27] K. Bhatia,et al. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging , 2002, Journal of neurology, neurosurgery, and psychiatry.
[28] P. Tonali,et al. Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease , 2002, Neuromuscular Disorders.
[29] P. Bauer,et al. Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. , 2002, Clinica chimica acta; international journal of clinical chemistry.
[30] L. Moo,et al. Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia , 2001, Journal of neurology, neurosurgery, and psychiatry.
[31] G. Bach. Mucolipidosis type IV. , 2001, Molecular genetics and metabolism.
[32] F. Gabreëls,et al. Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. , 2001, Brain : a journal of neurology.
[33] G. Schroth,et al. Extensive white-matter changes in case of adult polyglucosan body disease , 2001, Neuroradiology.
[34] R. Sakakibara,et al. Unilateral caudate head lesion simulating brain tumour in X-linked adult onset adrenoleukodystrophy , 2001, Journal of neurology, neurosurgery, and psychiatry.
[35] C. Scriver,et al. The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.
[36] H. Moser,et al. Evolution of phenotypes in adult male patients with X‐linked adrenoleukodystrophy , 2001, Annals of neurology.
[37] R. Schiffmann,et al. Clinical features of and recent advances in therapy for Fabry disease. , 2000, JAMA.
[38] F. Gabreëls,et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. , 2000, Radiology.
[39] N. Baumann,et al. Adult-onset leukodystrophies , 2000, Journal of Neurology.
[40] A. Bizzi,et al. MR imaging and proton MR spectroscopy in adult Krabbe disease. , 2000, AJNR. American journal of neuroradiology.
[41] F. Gabreëls,et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. , 2000, Brain : a journal of neurology.
[42] J. Malin,et al. Novel missense mutations in the glycogen‐branching enzyme gene in adult polyglucosan body disease , 2000, Annals of neurology.
[43] H. Moser,et al. X-linked adrenoleukodystrophy , 1993, Clinical Neurology and Neurosurgery.
[44] M. Baumgartner,et al. Clinical approach to inherited peroxisomal disorders: A series of 27 patients , 1998, Annals of neurology.
[45] R. Schiffmann,et al. Mucolipidosis type IV , 1998, Neurology.
[46] J. Wagner,et al. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy. , 1998, The New England journal of medicine.
[47] J. Saudubray,et al. Remethylation defects: guidelines for clinical diagnosis and treatment , 1998, European Journal of Pediatrics.
[48] R. Schiffmann,et al. Constitutive achlorhydria in mucolipidosis type IV. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[49] G. Addison. The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle , 1997, Journal of Inherited Metabolic Disease.
[50] L. Rumbach,et al. [Isolated spastic paraparesis disclosing Krabbe disease in adult age]. , 1997, Revue neurologique (Paris).
[51] H. Moser,et al. Localized proton magnetic resonance spectroscopy in patients with adult adrenoleukodystrophy. Increase of choline compounds in normal appearing white matter. , 1997, Archives of neurology.
[52] S. Levine,et al. Cerebrovascular complications of Fabry's disease , 1996, Annals of neurology.
[53] A. Moser,et al. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. , 1995, The Journal of pediatrics.
[54] K. Thulborn,et al. MR of the brain in mitochondrial myopathy. , 1995, AJNR. American journal of neuroradiology.
[55] S. Dimauro,et al. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) , 2016 .
[56] D. Walk,et al. Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylene‐ tetrahydrofolate reductase deficiency , 1994, Neurology.
[57] A. Luder,et al. Mucolipidosis type IV: a mild form with late onset. , 1993, American journal of medical genetics.
[58] A. Thompson,et al. Brain MRI changes in phenylketonuria. Associations with dietary status. , 1993, Brain : a journal of neurology.
[59] J. Chalk,et al. Spasticity and white matter abnormalities in adult phenylketonuria. , 1992, Journal of neurology, neurosurgery, and psychiatry.
[60] C Adamsbaum,et al. Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy , 1992, Neurology.
[61] Y. Seyama,et al. Cerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literature , 1991, Journal of the Neurological Sciences.
[62] D. Villasana,et al. Neurological deterioration in adult phenylketonuria , 1989, Journal of Inherited Metabolic Disease.
[63] R. Desnick,et al. METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY , 1979, Pediatric Research.
[64] M. Hart,et al. Late adult-onset metachromatic leukodystrophy. Dementia and polyneuropathy in a 63-year-old man. , 1978, Archives of neurology.
[65] B. Dan,et al. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. , 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[66] M. Zeviani,et al. Mitochondrial disorders. , 2004, Brain : a journal of neurology.
[67] T. Crawford,et al. Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. , 2003, AJNR. American journal of neuroradiology.
[68] C. Filley,et al. Toxic leukoencephalopathy. , 2001, The New England journal of medicine.
[69] K. Boberg,et al. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol , 2001 .
[70] Lsa,et al. Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy , 2000 .
[71] Y. Eto,et al. [Metachromatic leukodystrophy]. , 1998, Ryoikibetsu shokogun shirizu.
[72] J. Nelson,et al. Long-term stabilization after bone marrow transplantation in juvenile metachromatic leukodystrophy. , 1998, Archives of neurology.
[73] N. Baumann,et al. [Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases]. , 1993, Revue neurologique.
[74] N. Baumann,et al. Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. , 1991, Developmental neuroscience.
[75] N. Baumann,et al. [Adult disclosure of a case of familial adrenoleukodystrophy]. , 1985, Revue neurologique.