Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. - Wikidata - wikimedia - TriplyDB

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

http://www.wikidata.org/entity/Q30579308

about

Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.Krabbe Disease in the Arab World.Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.Imaging of adult leukodystrophies.Challenge of phenotype estimation for optimal treatment of Krabbe disease.Krabbe disease: One Hundred years from the bedside to the bench to the bedside.Newborn screening for Krabbe's disease.Clinical management of Krabbe disease.Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation Epidemiology of lysosomal storage diseases in Sweden.Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Newborn screening for Krabbe disease in New York State: the first eight years' experience.Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy.Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease."Crossing borders" SSIEM 2014 annual symposium in Innsbruck.Analysis of age-related changes in psychosine metabolism in the human brain.Adult-onset Krabbe disease in two generations of a Chinese family.

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P2860

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

http://www.wikidata.org/entity/Q30579308

description

2012 nî lūn-bûn

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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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Journal of Inherited Metabolic Disease

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Krabbe disease in adults: phen ...... ries of 11 cases and a review.

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P2093

Arnaud Lacour

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Bertrand Audoin

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Bertrand Degos

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Bertrand Fontaine

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Caroline Papeix

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Claire Douillard

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Frédéric Sedel

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Gérard Said

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Marie T Vanier

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Patrick Aubourg

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P2860

Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

Krabbe disease: neurophysiologic studies and MRI correlations.

Leukoencephalopathies associated with inborn errors of metabolism in adults.

Late onset globoid cell leukodystrophy

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Diagnosis of Krabbe's infantile leucodystrophy

Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging.

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.

Late onset Krabbe's leukodystrophy: a report of four cases.

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