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

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 859-868

  Debs, Rabab ^a   Froissart, Roseline ^b   Aubourg, Patrick ^c   Papeix, Caroline ^a   Douillard, Claire ^d   Degos, Bertrand ^a   Fontaine, Bertrand ^a,e   Audoin, Bertrand ^f   Lacour, Arnaud ^g   Said, Gérard ^a   Vanier, Marie T ^b,h   Sedel, Frédéric ^a,i  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c BICÊTRE HOSPITAL   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^f TIMONE HOSPITAL   (France)

^g UNIV LILLE   (France)

^h UNIVERSITÉ LYON 1   (France)

ⁱ SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; GALACTOSYLCERAMIDASE; GUANINE; TYROSINE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ALLELE; ARTICLE; CAUSE OF DEATH; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DEMYELINATING DISEASE; DNA POLYMORPHISM; DYSARTHRIA; ENZYME ACTIVITY; EVOKED BRAIN STEM AUDITORY RESPONSE; EVOKED RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; FEMALE; FOOT DISEASE; GALC GENE; GENE; GENOTYPE PHENOTYPE CORRELATION; GLOBOID CELL LEUKODYSTROPHY; GRAFT VERSUS HOST REACTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; HUMAN; MALE; MOLECULAR BIOLOGY; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PES CAVUS DISEASE; PRESCHOOL CHILD; PROPRIOCEPTION; PYRAMIDAL SIGN; QUADRIPLEGIA; SCHOOL CHILD; SENSORY DYSFUNCTION; SPASTIC PARAPLEGIA; SYMPTOMATOLOGY; TONGUE ATROPHY; TONGUE DISEASE;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; FEMALE; GENOTYPE; HUMANS; LEUKODYSTROPHY, GLOBOID CELL; MALE; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

EID: 84884349739     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9560-4     Document Type: Article

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