'Atypical' clinical variants of Anderson-Fabry disease [2]

Nephron

Volumn 89, Issue 4, 2001, Pages 469-470

  Sessa, Adalberto ^a,c   Meroni, Mietta ^a   Battini, Graziana ^a   Amato, Massimo ^a   Righetti, Marco ^a   Bertella, Mauro ^a   Brambilla, Pierluigi ^a   Bertagnolio, Barbara ^b  

^a DESIO HOSPITAL   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c Azienda Ospedaliera Ospedale Civile   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE;

ADULT; CARDIOMYOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; ELECTROCARDIOGRAM; ENZYME ACTIVITY; FABRY DISEASE; FAMILY HISTORY; FEMALE; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; HYPOKINESIA; KIDNEY BIOPSY; LETTER; MALE; PRIORITY JOURNAL; PROTEINURIA; RELAPSE; THORAX PAIN;

ELECTROCARDIOGRAPHY; FABRY DISEASE; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MIDDLE AGED; MYOCARDIAL ISCHEMIA;

EID: 0035199439     PISSN: 00282766     EISSN: None     Source Type: Journal    
DOI: 10.1159/000046124     Document Type: Letter

References (8)

1. Enzymatic defect in Fabry's disease: Ceramide trihexosidase deficiency
2. Molecular cloning and nucleotide sequencing of a cDNA encoding human α-galactosidase A
3. Alpha galactosidase A deficiency: Fabry disease
4. α-galactosidase A activity influences renal disease course in Fabry disease
5. Isolated glomerular protein-uria as the only clinical manifestation of Fabry's disease in an adult male
6. An atypical variant of Fabry's disease in men with left ventricular hypertrophy
7. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy
8. Fabry disease in patients with end-stage renal failure of unknown etiology