Literature DB >> 12986848

A clinico-pathological study of cystinosis in two siblings.

R J K BROWN.   

Abstract

Entities:  

Keywords:  CYSTINE/metabolism

Mesh：

Substances：

Year:  1952        PMID： 12986848      PMCID： PMC1988577          DOI： 10.1136/adc.27.135.428

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  1 in total

1.  The amino-aciduria in Fanconi syndrome. A study making extensive use of techniques based on paper partition chromatography.

Authors:  C E Dent
Journal:  Biochem J       Date:  1947       Impact factor: 3.857
  1 in total
  4 in total

1.  [Congenital metabolic disorders].

Authors:  K SCHREIER
Journal:  Klin Wochenschr       Date:  1953-08-15

2.  Bibliography of human genetics.

Authors:  V R PHELPS
Journal:  Am J Hum Genet       Date:  1953-09       Impact factor: 11.025

3.  Chitotriosidase as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis.

Authors:  Koenraad R P Veys; Mohamed A Elmonem; Maria Van Dyck; Mirian C Janssen; Elisabeth A M Cornelissen; Katharina Hohenfellner; Giusi Prencipe; Lambertus P van den Heuvel; Elena Levtchenko
Journal:  J Am Soc Nephrol       Date:  2020-04-09       Impact factor: 10.121

Review 4.  Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives.

Authors:  Francesco Emma; Giovanni Montini; Marco Pennesi; Licia Peruzzi; Enrico Verrina; Bianca Maria Goffredo; Fabrizio Canalini; David Cassiman; Silvia Rossi; Elena Levtchenko
Journal:  Cells       Date:  2022-06-04       Impact factor: 7.666
  4 in total

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