Clinical and molecular characterization of an extended family with fabry disease

Journal of the Medical Association of Thailand

Volumn 89, Issue 9, 2006, Pages 1528-1535

  Wattanasirichaigoon, Duangrurdee ^a   Svasti, Jisnuson ^b   Ketudat Cairns, James R ^c   Tangnararatchakit, Kanchana ^a   Visudtibhan, Anannit ^a   Keeratichamroen, Siriporn ^b   Ngiwsara, Lukana ^b   Khowsathit, Pongsakdi ^a   Onkoksoong, Tassanee ^c   Lekskul, Apatsa ^a   Mongkolsiri, Dowruang ^d   Jariengprasert, Chanchai ^a   Thawil, Cheamchit ^a   Ruencharoen, Suwimol ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Krung Thep Maha Nakhon   (Thailand)

^c SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^d Sukhothai Hospital   (Thailand)

Author keywords

Alpha galactosidase A; Angiokeratoma; Fabry disease; GLA gene; Neuropathic pain; Renal failure

Indexed keywords

ALPHA GALACTOSIDASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME ACTIVITY; FABRY DISEASE; FAMILY HISTORY; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; KIDNEY FAILURE; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; URINALYSIS;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; ANGIOKERATOMA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FAMILY; FEMALE; HUMANS; KIDNEY FAILURE; MALE; MUTATION, MISSENSE; PEDIGREE; RENAL INSUFFICIENCY;

EID: 33749444100     PISSN: 01252208     EISSN: 01252208     Source Type: Journal    
DOI: None     Document Type: Article

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