Literature DB >> 12068024

Biochemical and molecular genetic basis of Fabry disease.

Gregory M Pastores1, Yeong-Hau H Lien.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 12068024

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


× No keyword cloud information.
  10 in total

1.  Adamantyl glycosphingolipids provide a new approach to the selective regulation of cellular glycosphingolipid metabolism.

Authors:  Mustafa Kamani; Murugesapillai Mylvaganam; Robert Tian; Brigitte Rigat; Beth Binnington; Clifford Lingwood
Journal:  J Biol Chem       Date:  2011-04-25       Impact factor: 5.157

2.  A survey of the pain experienced by males and females with Fabry disease.

Authors:  Andrea L Gibas; Regan Klatt; Jack Johnson; Joe T R Clarke; Joel Katz
Journal:  Pain Res Manag       Date:  2006       Impact factor: 3.037

Review 3.  Emerging molecular mechanisms of vascular dementia.

Authors:  Milagros C Romay; Camilo Toro; M Luisa Iruela-Arispe
Journal:  Curr Opin Hematol       Date:  2019-05       Impact factor: 3.284

4.  IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

Authors:  Catharina Whybra; Andreas Schwarting; Jörg Kriegsmann; Andreas Gal; Eugen Mengel; Christoph Kampmann; Frank Baehner; Ellen Schaefer; Michael Beck
Journal:  Pediatr Nephrol       Date:  2006-07-13       Impact factor: 3.714

5.  Mutational analysis of the GLA gene in Mexican families with Fabry disease.

Authors:  Bianca Ethel Gutiérrez-Amavizca; Andreas Gal; Rocío Ortíz-Orozco; Ulrich Orth; Ernesto Prado Montes De Oca; Jaime Paul Gutiérrez-Amavizca; Luis E Figuera
Journal:  J Genet       Date:  2017-03       Impact factor: 1.166

6.  Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.

Authors:  Andrea L Gibas; Regan Klatt; Jack Johnson; Joe T R Clarke; Joel Katz
Journal:  J Genet Couns       Date:  2008-10-16       Impact factor: 2.537

Review 7.  Sphingolipid lysosomal storage disorders.

Authors:  Frances M Platt
Journal:  Nature       Date:  2014-06-05       Impact factor: 49.962

8.  Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea.

Authors:  Jeong-Yup Kim; Young-Youl Hyun; Ji-Eun Lee; Hye-Ran Yoon; Gu-Hwan Kim; Han-Wook Yoo; Seong-Tae Cho; No-Won Chun; Byoung-Chunn Jeoung; Hwa-Jung Kim; Keong-Wook Kim; Seong-Nam Kim; Yung-A Kim; Hyun-Ah Lee; Jong-Young Lee; Yung-Chun Lee; Hun-Kwan Lim; Keong-Sik Oh; Seong-Hwan Son; Beong-Hee Yu; Kyeong-So Wee; Eun-Jong Lee; Young-Ki Lee; Jung-Woo Noh; Seung-Jung Kim; Kyu-Bok Choi; Suk-Hee Yu; Heui-Jung Pyo; Young-Joo Kwon
Journal:  Korean J Intern Med       Date:  2010-11-27       Impact factor: 3.165

Review 9.  Genetics of vascular dementia - review from the ICVD working group.

Authors:  M Arfan Ikram; Anna Bersano; Raquel Manso-Calderón; Jian-Ping Jia; Helena Schmidt; Lefkos Middleton; Benedetta Nacmias; Saima Siddiqi; Hieab H H Adams
Journal:  BMC Med       Date:  2017-03-06       Impact factor: 8.775

Review 10.  Deposit Diseases as Differential Diagnosis of Left Ventricular Hypertrophy in Patients with Heart Failure and Preserved Systolic Function.

Authors:  Fábio Fernandes; Murillo Oliveira Antunes; Viviane Tiemi Hotta; Carlos Eduardo Rochitte; Charles Mady
Journal:  Arq Bras Cardiol       Date:  2019-11       Impact factor: 2.000
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.