Literature DB >> 15126980

Fabry disease in childhood.

Robert J Desnick1, Roscoe O Brady.   

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Year:  2004        PMID： 15126980     DOI： 10.1016/j.jpeds.2004.01.051

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  38 in total

1.  Umbilical angiectases as the sole clinical sign of Fabry disease in a 9-year-old boy.

Authors:  Andreas O Eggert; Rupert Wössner; Anita Knoll; Henning Hamm; Christoph Wanner; Frank B Breunig
Journal:  Eur J Pediatr       Date:  2005-11-03       Impact factor: 3.183

Review 2.  Glycosphingolipidoses: beyond the enzymatic defect.

Authors:  Annick Raas-Rothschild; Irene Pankova-Kholmyansky; Yaacov Kacher; Anthony H Futerman
Journal:  Glycoconj J       Date:  2004       Impact factor: 2.916

3.  Foot process effacement with normal urinalysis in classic fabry disease.

Authors:  Takahiro Kanai; Takanori Yamagata; Takane Ito; Jun Odaka; Takashi Saito; Jun Aoyagi; Masahisa Kobayashi; Toya Ohashi; Yoshihiko Ueda; Mariko Y Momoi
Journal:  JIMD Rep       Date:  2011-06-22

4.  The face of lysosomal storage disorders in India: a need for early diagnosis.

Authors:  Shruti Agarwal; Keya Lahiri; Mamta Muranjan; Nirmal Solanki
Journal:  Indian J Pediatr       Date:  2014-12-09       Impact factor: 1.967

5.  Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Authors:  Yung-Hsiu Lu; Po-Hsun Huang; Li-Yun Wang; Ting-Rong Hsu; Hsing-Yuan Li; Pi-Chang Lee; Yu-Ping Hsieh; Sheng-Che Hung; Yu-Chen Wang; Sheng-Kai Chang; Ya-Ting Lee; Ping-Hsun Ho; Hui-Chen Ho; Dau-Ming Niu
Journal:  J Hum Genet       Date:  2017-11-15       Impact factor: 3.172

Review 6.  Enzyme replacement therapy of Fabry disease.

Authors:  Joe T R Clarke; R Mark Iwanochko
Journal:  Mol Neurobiol       Date:  2005-08       Impact factor: 5.590

Review 7.  Assessment of renal pathology and dysfunction in children with Fabry disease.

Authors:  Uma Ramaswami; Behzad Najafian; Arrigo Schieppati; Michael Mauer; Daniel G Bichet
Journal:  Clin J Am Soc Nephrol       Date:  2010-01-07       Impact factor: 8.237

8.  Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report.

Authors:  Daniela Concolino; Maria Rapsomaniki; Eliana Disabella; Simona Sestito; Maria G Pascale; Maria T Moricca; Giuseppe Bonapace; Elisea Arbustini; Pietro Strisciuglio
Journal:  BMC Pediatr       Date:  2010-05-17       Impact factor: 2.125

9.  Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer.

Authors:  Jin-Ok Choi; Mi Hee Lee; Hae-Young Park; Sung-Chul Jung
Journal:  J Biomed Sci       Date:  2010-04-16       Impact factor: 8.410

10.  Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.

Authors:  Fernando C Fervenza; Roser Torra; David G Warnock
Journal:  Biologics       Date:  2008-12
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