Literature DB >> 12750973

A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies.

Marco Zaffanello, Renzo Beghini, Giorgio Zamboni, Vassilios Fanos.   

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Year:  2003        PMID： 12750973     DOI： 10.1007/s00467-003-1189-y

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  6 in total

Review 1.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

2.  A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Authors:  R Parvari; I Brodyansky; O Elpeleg; S Moses; D Landau; E Hershkovitz
Journal:  Am J Hum Genet       Date:  2001-08-24       Impact factor: 11.025

Review 3.  Treatment of cystinuria.

Authors:  D Joly; P Rieu; A Méjean; M F Gagnadoux; M Daudon; P Jungers
Journal:  Pediatr Nephrol       Date:  1999-11       Impact factor: 3.714

4.  Cystinuria subtype and the risk of nephrolithiasis.

Authors:  P Goodyer; I Saadi; P Ong; G Elkas; R Rozen
Journal:  Kidney Int       Date:  1998-07       Impact factor: 10.612

5.  Childhood cystinuria in New South Wales. Results in children who were followed up after being detected by urinary screening in infancy.

Authors:  A Smith; J S Yu; D A Brown
Journal:  Arch Dis Child       Date:  1979-09       Impact factor: 3.791

6.  Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Authors:  M J Calonge; V Volpini; L Bisceglia; F Rousaud; L de Sanctis; E Beccia; L Zelante; X Testar; A Zorzano; X Estivill
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205
  6 in total
  5 in total

1.  First cardiac manifestation of hypotonia-cystinuria syndrome.

Authors:  Mustafa Kılıç; Ahmet Cevdet Ceylan; Utku Arman Örün; Esra Kılıç
Journal:  Metab Brain Dis       Date:  2018-04-07       Impact factor: 3.584

Review 2.  Genetic kidney diseases in the pediatric population of southern Israel.

Authors:  Gal Finer; Hanna Shalev; Daniel Landau
Journal:  Pediatr Nephrol       Date:  2006-05-30       Impact factor: 3.714

3.  Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Authors:  B Chabrol; K Martens; S Meulemans; A Cano; J Jaeken; G Matthijs; J W M Creemers
Journal:  BMJ Case Rep       Date:  2009-02-02

4.  Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Authors:  Jaak Jaeken; Kevin Martens; Inge Francois; Francois Eyskens; Claudine Lecointre; Rita Derua; Sandra Meulemans; Jerry W Slootstra; Etienne Waelkens; Francis de Zegher; John W M Creemers; Gert Matthijs
Journal:  Am J Hum Genet       Date:  2005-11-23       Impact factor: 11.025

5.  Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

Authors:  Atif Towheed; Christian L Hietanen; Vasudeva G Kamath; Larry N Singh; Angela Ho; Kristin Engelstad; Kayla Cornett; Jacqueline Montes; Darryl De Vivo
Journal:  Ann Clin Transl Neurol       Date:  2021-10-06       Impact factor: 4.511
  5 in total

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