Literature DB >> 8528242

Early copper-histidine treatment for Menkes disease.

Z Tümer, N Horn, T Tønnesen, J Christodoulou, J T Clarke, B Sarkar.   

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Year:  1996        PMID： 8528242     DOI： 10.1038/ng0196-11

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  18 in total

Review 1.  ATP7A-related copper transport diseases-emerging concepts and future trends.

Authors:  Stephen G Kaler
Journal:  Nat Rev Neurol       Date:  2011-01       Impact factor: 42.937

2.  Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Authors:  Z Tümer; C Lund; J Tolshave; B Vural; T Tønnesen; N Horn
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

Review 3.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

4.  Pamidronate treatment improves bone mineral density in children with Menkes disease.

Authors:  S Kanumakala; A Boneh; M Zacharin
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

5.  Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

Authors:  L B Møller; Z Tümer; C Lund; C Petersen; T Cole; R Hanusch; J Seidel; L R Jensen; N Horn
Journal:  Am J Hum Genet       Date:  2000-03-17       Impact factor: 11.025

6.  Nanopore detection of copper ions using a polyhistidine probe.

Authors:  Guihua Wang; Liang Wang; Yujing Han; Shuo Zhou; Xiyun Guan
Journal:  Biosens Bioelectron       Date:  2013-10-23       Impact factor: 10.618

7.  Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

Authors:  A S Payne; E J Kelly; J D Gitlin
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-01       Impact factor: 11.205

Review 8.  Menkes disease: underlying genetic defect and new diagnostic possibilities.

Authors:  Z Tümer; N Horn
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

9.  A comparison of the mutation spectra of Menkes disease and Wilson disease.

Authors:  Gloria Hsi; Diane W Cox
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

10.  Fibroblast silver loading for the diagnosis of Menkes disease.

Authors:  F W Verheijen; C E Beerens; A C Havelaar; W J Kleijer; G M Mancini
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318
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