Immunofluorescence analysis of trihexasylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease

被引：10

作者：

Itoh, K

Takenaka, T

Nakao, S

Setoguchi, M

Tanaka, H

Suzuki, T

Sakuraba, H

机构：

[1] KAGOSHIMA UNIV,FAC MED,DEPT INTERNAL MED 1,KAGOSHIMA 890,JAPAN

[2] GUNMA UNIV,COLL MED CARE & TECHNOL,MAEBASHI,GUMMA 371,JAPAN

来源：

AMERICAN JOURNAL OF CARDIOLOGY | 1996年 / 78卷 / 01期

关键词：

D O I：

10.1016/S0002-9149(96)00241-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An immunofluorescence method was applied to detect trihexosylceramide accumulated in the cardiac tissues from a variant hemizygote and a heterozygous female with Fabry disease, the incidence of which had been suspected to be high.

引用

页码：116 / &

页数：3

共 15 条

[1] FABRY DISEASE - MOLECULAR DIAGNOSIS OF HEMIZYGOTES AND HETEROZYGOTES
DESNICK, RJ
BERNSTEIN, HS
ASTRIN, KH
BISHOP, DF
ENZYME, 1987, 38 (1-4) : 54 - 64
[2] Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes
Kitagawa, Teruo
Suzuki, Ken
Ishige, Nobuyuki
Ohashi, Toya
Kobayashi, Masahisa
Eto, Yoshikatsu
Tanaka, Akemi
Odaka, Hideo
Owada, Misao
PEDIATRIC NEPHROLOGY, 2008, 23 (09) : 1461 - 1471
[3] Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes
Teruo Kitagawa
Ken Suzuki
Nobuyuki Ishige
Toya Ohashi
Masahisa Kobayashi
Yoshikatsu Eto
Akemi Tanaka
Hideo Odaka
Misao Owada
Pediatric Nephrology, 2008, 23 : 1461 - 1471
[4] BIOCHEMICAL AND CLINICAL ANALYSIS OF ACCUMULATED GLYCOLIPIDS IN SYMPTOMATIC HETEROZYGOTES OF ANGIOKERATOMA CORPORIS DIFFUSUM (FABRYS-DISEASE) IN COMPARISON WITH HEMIZYGOTES
HOZUMI, I
NISHIZAWA, M
ARIGA, T
MIYATAKE, T
JOURNAL OF LIPID RESEARCH, 1990, 31 (02) : 335 - 340
[5] Fabry disease:: Twenty-two novel mutations in the α-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
Ashton-Prolla, P
Tong, BZ
Shabbeer, J
Astrin, KH
Eng, CM
Desnick, RJ
JOURNAL OF INVESTIGATIVE MEDICINE, 2000, 48 (04) : 227 - 235
[6] FABRY DISEASE - MOLECULAR ANALYSIS OF CLASSICAL AND VARIANT PHENOTYPES
NIEHAUS, DJ
ENG, CM
RESNICKSILVERMAN, L
ASTRIN, KA
DESNICK, RJ
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 214 - 214
[7] D313Y Variant in Fabry Disease A Systematic Review and Meta-analysis
Palaiodimou, Lina
Stefanou, Maria-Ioanna
Bakola, Eleni
Papadopoulou, Marianna
Kokotis, Panagiotis
Vrettou, Agathi-Rosa
Kapsia, Eleni
Petras, Dimitrios
Anastasakis, Aris
Xifaras, Nikolaos
Karachaliou, Eleni
Touloumi, Giota
Vlachopoulos, Charalambos
Boletis, Ioannis N.
Giannopoulos, Sotirios
Tsivgoulis, Georgios
Zompola, Christina
NEUROLOGY, 2022, 99 (19) : E2188 - E2200
[8] Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis
Lackova, Alexandra
Szilasiova, Jarmila
Vitkova, Marianna
Ostrozovicova, Miriam
Skorvanek, Matej
NEUROLOGY, 2023, 100 (22)
[9] Editors' Note: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis
Ganesh, Aravind
Galetta, Steven
NEUROLOGY, 2023, 100 (22)
[10] Author Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis
Palaiodimou, Lina
Stefanou, Maria-Ioanna
Tsivgoulis, Georgios
NEUROLOGY, 2023, 101 (10) : 457 - 458

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