Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
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 diseaseClinical 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 reportsThe 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 mutationEpidemiology 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.
P2860
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P2860
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@ast
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@en
type
label
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@ast
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@en
prefLabel
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@ast
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@en
P2093
P2860
P1476
Krabbe disease in adults: phen ...... ries of 11 cases and a review.
@en
P2093
Arnaud Lacour
Bertrand Audoin
Bertrand Degos
Bertrand Fontaine
Caroline Papeix
Claire Douillard
Frédéric Sedel
Gérard Said
Marie T Vanier
Patrick Aubourg
P2860
P2888
P304
P356
10.1007/S10545-012-9560-4
P577
2012-11-30T00:00:00Z
P5875
P6179
1001834663