Literature DB >> 24541401

The genetics of cystinuria.

C E DENT, H HARRIS.   

Abstract

Entities:  

Keywords:  CYSTINE; GENETICS

Mesh：

Substances：

Year:  1951        PMID： 24541401     DOI： 10.1111/j.1469-1809.1951.tb02459.x

Source DB:  PubMed          Journal:  Ann Eugen


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  7 in total

1.  [Congenital metabolic disorders].

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

2.  Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Authors:  Markus Reichold; Enriko D Klootwijk; Joerg Reinders; Edgar A Otto; Mario Milani; Carsten Broeker; Chris Laing; Julia Wiesner; Sulochana Devi; Weibin Zhou; Roland Schmitt; Ines Tegtmeier; Christina Sterner; Hannes Doellerer; Kathrin Renner; Peter J Oefner; Katja Dettmer; Johann M Simbuerger; Ralph Witzgall; Horia C Stanescu; Simona Dumitriu; Daniela Iancu; Vaksha Patel; Monika Mozere; Mehmet Tekman; Graciana Jaureguiberry; Naomi Issler; Anne Kesselheim; Stephen B Walsh; Daniel P Gale; Alexander J Howie; Joana R Martins; Andrew M Hall; Michael Kasgharian; Kevin O'Brien; Carlos R Ferreira; Paldeep S Atwal; Mahim Jain; Alexander Hammers; Geoffrey Charles-Edwards; Chi-Un Choe; Dirk Isbrandt; Alberto Cebrian-Serrano; Ben Davies; Richard N Sandford; Christopher Pugh; David S Konecki; Sue Povey; Detlef Bockenhauer; Uta Lichter-Konecki; William A Gahl; Robert J Unwin; Richard Warth; Robert Kleta
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

Review 3.  Cystinosis: a review of the different forms and of recent advances.

Authors:  W Kroll; K H Lichte
Journal:  Humangenetik       Date:  1973

4.  [An isolated defect of the tubular cystine reabsorption in a family with idiopathic hypoparathyroidism].

Authors:  J Brodehl; K Gellissen; S Kowalewski
Journal:  Klin Wochenschr       Date:  1967-01-01

Review 5.  Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

Authors:  Charles R Scriver
Journal:  J Inherit Metab Dis       Date:  2008-10-12       Impact factor: 4.982

6.  Familial cystinuria in Ioannina District (Greece). Diagnosis and treatment.

Authors:  G Kallistratos; C Dimopoulos; V Kalfakakou-Vadalouka; A Evangelou; D Stockidis; P Vezyraki; C Charalambopoulos; I Mita
Journal:  Urol Res       Date:  1983

7.  The adult presenting idiopathic Fanconi syndrome.

Authors:  D P Brenton; D A Isenberg; D C Cusworth; P Garrod; S Krywawych; T C Stamp
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
  7 in total

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