Literature DB >> 16189626

Congenital/inherited kidney diseases: how to identify them early and how to manage them.

Jean-Pierre Grünfeld1.   

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Year:  2005        PMID： 16189626     DOI： 10.1007/s10157-005-0352-0

Source DB:  PubMed          Journal:  Clin Exp Nephrol        ISSN： 1342-1751            Impact factor:   2.801


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  18 in total

1.  NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.

Authors:  Hiroyasu Tsukaguchi; Akulapalli Sudhakar; Tu Cam Le; Trang Nguyen; Jun Yao; Joshua A Schwimmer; Asher D Schachter; Esteban Poch; Patricia F Abreu; Gerald B Appel; Aparecido B Pereira; Raghu Kalluri; Martin R Pollak
Journal:  J Clin Invest       Date:  2002-12       Impact factor: 14.808

2.  Epidemiological study of kidney survival in autosomal dominant polycystic kidney disease.

Authors:  Robert W Schrier; Kimberly K McFann; Ann M Johnson
Journal:  Kidney Int       Date:  2003-02       Impact factor: 10.612

3.  How to improve the early diagnosis of Fabry's disease?

Authors:  Jean-Pierre Grünfeld
Journal:  Kidney Int       Date:  2003-09       Impact factor: 10.612

4.  End-stage renal failure in Lowe syndrome.

Authors:  Leila Tricot; Yasmina Yahiaoui; Luis Teixeira; Leila Benabdallah; Eugene Rothschild; Jean-Pierre Juquel; Veronique Satre; Jean-Pierre Grünfeld; Dominique Chauveau
Journal:  Nephrol Dial Transplant       Date:  2003-09       Impact factor: 5.992

5.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Authors:  C M Eng; N Guffon; W R Wilcox; D P Germain; P Lee; S Waldek; L Caplan; G E Linthorst; R J Desnick
Journal:  N Engl J Med       Date:  2001-07-05       Impact factor: 91.245

6.  Renal transplantation in Alagille syndrome.

Authors:  M Schonck; S Hoorntje; J van Hooff
Journal:  Nephrol Dial Transplant       Date:  1998-01       Impact factor: 5.992

7.  NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Authors:  N Boute; O Gribouval; S Roselli; F Benessy; H Lee; A Fuchshuber; K Dahan; M C Gubler; P Niaudet; C Antignac
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

Review 8.  Tumour suppressors hamartin and tuberin: intracellular signalling.

Authors:  Vera P Krymskaya
Journal:  Cell Signal       Date:  2003-08       Impact factor: 4.315

9.  Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant.

Authors:  E R Gagné; E Deland; M Daudon; L H Noël; T Nawar
Journal:  Am J Kidney Dis       Date:  1994-07       Impact factor: 8.860

10.  Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.

Authors:  Laura Massella; Andrea Onetti Muda; Tullio Faraggiana; Cristiano Bette; Alessandra Renieri; Gianfranco Rizzoni
Journal:  Kidney Int       Date:  2003-11       Impact factor: 10.612
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  1 in total

Review 1.  Opinion: Ocular features aid the diagnosis of Alport syndrome.

Authors:  Judy Savige; Deb Colville
Journal:  Nat Rev Nephrol       Date:  2009-06       Impact factor: 28.314
  1 in total

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