Literature DB >> 6791467

Infantile cystinosis: a reappraisal of early and late symptoms.

M Broyer, M Guillot, M C Gubler, R Habib.   

Abstract

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Year:  1981        PMID： 6791467

Source DB:  PubMed          Journal:  Adv Nephrol Necker Hosp        ISSN： 0084-5957


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  20 in total

Review 1.  Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Authors:  Ekaterini Tsilou; Min Zhou; William Gahl; Pamela C Sieving; Chi-Chao Chan
Journal:  Surv Ophthalmol       Date:  2007 Jan-Feb       Impact factor: 6.048

2.  Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

Authors:  Stéphanie Cherqui; Caroline Sevin; Ghislaine Hamard; Vasiliki Kalatzis; Mireille Sich; Marie O Pequignot; Karïn Gogat; Marc Abitbol; Michel Broyer; Marie-Claire Gubler; Corinne Antignac
Journal:  Mol Cell Biol       Date:  2002-11       Impact factor: 4.272

3.  Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.

Authors:  Giusi Prencipe; Ivan Caiello; Stephanie Cherqui; Thomas Whisenant; Stefania Petrini; Francesco Emma; Fabrizio De Benedetti
Journal:  J Am Soc Nephrol       Date:  2014-02-13       Impact factor: 10.121

4.  Renal transplantation in 22 children with nephropathic cystinosis.

Authors:  J H Ehrich; J Brodehl; D I Byrd; S Hossfeld; P F Hoyer; K P Leipert; G Offner; G Wolff
Journal:  Pediatr Nephrol       Date:  1991-11       Impact factor: 3.714

5.  Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine.

Authors:  M Broyer; M J Tête; G Guest; J P Berthélémé; F Labrousse; M Poisson
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 6.  Nephropathic cystinosis: late complications of a multisystemic disease.

Authors:  Galina Nesterova; William Gahl
Journal:  Pediatr Nephrol       Date:  2008-06       Impact factor: 3.714

7.  Cystine storage in cultured myotubes from patients with nephropathic cystinosis.

Authors:  G S Harper; I Bernardini; O Hurko; J Zuurveld; W A Gahl
Journal:  Biochem J       Date:  1987-05-01       Impact factor: 3.857

8.  Late symptoms in infantile cystinosis.

Authors:  M Broyer; M J Tete; M C Gubler
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

9.  Complications of nephropathic cystinosis after renal failure.

Authors:  W A Gahl; M I Kaiser-Kupfer
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

10.  Ocular changes in some progressive hereditary nephropathies.

Authors:  J L Dufier; D Orssaud; P Dhermy; M C Gubler; M F Gagnadoux; C Kleinknecht; M Broyer
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714
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