Diagnostic dilemmas in Fabry disease: A case series study on GLA mutations of unknown clinical significance

Clinical Genetics

Volumn 88, Issue 2, 2015, Pages 161-166

  Smid, B E ^a   Hollak, C E M ^a   Poorthuis, B J H M ^a   van den Bergh Weerman, M A ^a   Florquin, S ^a   Kok, W E M ^a   Lekanne Deprez, R H ^a   Timmermans, J ^b   Linthorst, G E ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cardiac variant; Diagnosis; Fabry disease; Phenotype; Renal variant; Screening; Variant of unknown significance (VUS)

Indexed keywords

ALPHA GALACTOSIDASE; CHLOROQUINE; GLOBOTRIAOSYLSPHINGOSINE; MYOSIN BINDING PROTEIN C; SPHINGOSINE; UNCLASSIFIED DRUG; ALPHA-GALACTOSIDASE A, HUMAN; GLOBOSIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CORONARY ARTERY BYPASS GRAFT; DIFFERENTIAL DIAGNOSIS; DYSLIPIDEMIA; FABRY DISEASE; FEMALE; GENE MUTATION; HEART INFARCTION; HEART MUSCLE BIOPSY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; KIDNEY BIOPSY; KIDNEY FAILURE; MALE; MIDDLE AGED; NAIL PATELLA SYNDROME; PERCEPTION DEAFNESS; PERIPHERAL OCCLUSIVE ARTERY DISEASE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; YOUNG ADULT; BIOPSY; BLOOD; CASE REPORT; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETICS; MUTATION;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; BIOPSY; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; FABRY DISEASE; FEMALE; GLOBOSIDES; HUMANS; MALE; MIDDLE AGED; MUTATION; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84935064318     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12449     Document Type: Article

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