X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease

Revue de Medecine Interne

Volumn 31, Issue SUPPL. 2, 2010, Pages

  Germain, D P ^a,b   Benistan, K ^b   Angelova, L ^c  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c UNIVERSITY HOSPITAL ST MARINA   (Bulgaria)

Author keywords

Fabry disease; Lysosomal storage disease

Indexed keywords

GLOBOTRIAOSYLCERAMIDE;

ARTICLE; ELECTRON MICROSCOPY; ENZYMATIC ASSAY; FABRY DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC TRAIT; GENOTYPE; GLA GENE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN GENOME; MICROSCOPY; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SEX DIFFERENCE; SLIT LAMP; X CHROMOSOMAL INHERITANCE; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE INHERITANCE;

BIOLOGICAL MARKERS; FABRY DISEASE; FEMALE; GENES, X-LINKED; GENETIC COUNSELING; HUMANS; TRIHEXOSYLCERAMIDES;

EID: 78650722038     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/S0248-8663(10)70013-8     Document Type: Article

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