Literature DB >> 5644557

Cystathioninuria and renal iminoglycinuria in a pedigree.

D T Whelan, C R Scriver.   

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Year:  1968        PMID： 5644557     DOI： 10.1056/NEJM196804252781702

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  5 in total

Review 1.  Diseases of Jews.

Authors:  D M Krikler
Journal:  Postgrad Med J       Date:  1970-12       Impact factor: 2.401

2.  Iminoglycinuria--a "harmless" inborn error of metabolism?

Authors:  G R Fraser; A I Friedmann; V M Patton; D N Wade; L I Woolf
Journal:  Humangenetik       Date:  1968

3.  Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice.

Authors:  F Halal; C R Scriver; D W Cox; L Jaber; I Varsano
Journal:  Can Med Assoc J       Date:  1979-07-07       Impact factor: 8.262

4.  Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Authors:  Jian Wang; Robert A Hegele
Journal:  Hum Genet       Date:  2003-02-06       Impact factor: 4.132

5.  Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

Authors:  Stefan Bröer; Charles G Bailey; Sonja Kowalczuk; Cynthia Ng; Jessica M Vanslambrouck; Helen Rodgers; Christiane Auray-Blais; Juleen A Cavanaugh; Angelika Bröer; John E J Rasko
Journal:  J Clin Invest       Date:  2008-11-06       Impact factor: 14.808
  5 in total

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