262 related articles for article (PubMed ID: 6274191)
1. Heterozygote detection in Fabry disease utilizing multiple enzyme activities.
Sheth KJ; Good TA; Murphy JV
Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191
[TBL] [Abstract][Full Text] [Related]
2. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
Mirceva V; Hein R; Ring J; Möhrenschlager M
Australas J Dermatol; 2010 Feb; 51(1):36-8. PubMed ID: 20148840
[TBL] [Abstract][Full Text] [Related]
3. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
[TBL] [Abstract][Full Text] [Related]
4. [Biochemical diagnosis of Anderson-Fabry disease in two brothers].
Vidershaĭn GIa; Beĭer EM; Mendel'son MM; Livandovskiĭ IuA
Vopr Med Khim; 1986; 32(5):120-3. PubMed ID: 3095985
[TBL] [Abstract][Full Text] [Related]
5. Pseudo-clinical Fabry's disease without alpha galactosidase deficiency.
Peltier A; Herbeuval E; Brondeau MT; Belleville F; Nabet P
Biomedicine; 1977 May; 26(3):194-201. PubMed ID: 407951
[TBL] [Abstract][Full Text] [Related]
6. [Substrate specificity of multiple forms of human alpha-D-galactosidase and alpha-D-fucosidase].
Baskaeva EM; Shono NI; Kozlova IK; Vidershaĭn GIa
Biokhimiia; 1989 Mar; 54(3):421-6. PubMed ID: 2546612
[TBL] [Abstract][Full Text] [Related]
7. [Biochemical study of unusual cases of Fabry disease].
Beĭer EM; Karpova EA; Udalova OV; Tsvetkova IV
Vopr Med Khim; 1998; 44(5):494-500. PubMed ID: 9916266
[TBL] [Abstract][Full Text] [Related]
8. [Diagnosis of Fabry's disease].
Mendel'son MM; Livandovskiĭ IuA; Vidershaĭn GIa; Bruk EI; Il'ina GS
Ter Arkh; 1987; 59(8):137-41. PubMed ID: 3120344
[No Abstract] [Full Text] [Related]
9. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
10. The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease.
Libert J; Tondeur M; Van Hoof F
Birth Defects Orig Artic Ser; 1976; 12(3):221-39. PubMed ID: 821559
[TBL] [Abstract][Full Text] [Related]
11. Pseudodeficiency of alpha-galactosidase A.
Bach G; Rosenmann E; Karni A; Cohen T
Clin Genet; 1982 Jan; 21(1):59-64. PubMed ID: 6279339
[TBL] [Abstract][Full Text] [Related]
12. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
Sakuraba H
Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243
[TBL] [Abstract][Full Text] [Related]
13. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.
Spence MW; Goldbloom AL; Burgess JK; D'entremont D; Ripley BA; Weldon KL
J Med Genet; 1977 Apr; 14(2):91-9. PubMed ID: 404411
[TBL] [Abstract][Full Text] [Related]
14. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
15. Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.
Wappner RS; Brandt IK
Pediatr Res; 1976 Jun; 10(6):629-32. PubMed ID: 818611
[TBL] [Abstract][Full Text] [Related]
16. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects].
Peces R; Olea T
Nefrologia; 2002; 22(6):540-6. PubMed ID: 12516287
[TBL] [Abstract][Full Text] [Related]
17. [Fabry disease: diagnostic due of substitutive enzyme-therapy].
Barbey F; Widmer U; Burnier M; Lidove O
Rev Med Suisse Romande; 2002 Sep; 122(9):449-53. PubMed ID: 12422475
[TBL] [Abstract][Full Text] [Related]
18. Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.
Hagège AA; Caudron E; Damy T; Roudaut R; Millaire A; Etchecopar-Chevreuil C; Tran TC; Jabbour F; Boucly C; Prognon P; Charron P; Germain DP;
Heart; 2011 Jan; 97(2):131-6. PubMed ID: 21062768
[TBL] [Abstract][Full Text] [Related]
19. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.
Morgan SH; Rudge P; Smith SJ; Bronstein AM; Kendall BE; Holly E; Young EP; Crawfurd MD; Bannister R
Q J Med; 1990 May; 75(277):491-507. PubMed ID: 2167495
[TBL] [Abstract][Full Text] [Related]
20. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Ishii S; Sakuraba H; Shimmoto M; Minamikawa-Tachino R; Suzuki T; Suzuki Y
Ann Neurol; 1991 May; 29(5):560-4. PubMed ID: 1650161
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
