Literature DB >> 8295415

Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease.

S G Kaler1, W A Gahl, S A Berry, C S Holmes, D S Goldstein.   

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Year:  1993        PMID： 8295415     DOI： 10.1007/BF00714295

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Simultaneous liquid-chromatographic determination of 3,4-dihydroxyphenylglycol, catecholamines, and 3,4-dihydroxyphenylalanine in plasma, and their responses to inhibition of monoamine oxidase.

Authors:  G Eisenhofer; D S Goldstein; R Stull; H R Keiser; T Sunderland; D L Murphy; I J Kopin
Journal:  Clin Chem       Date:  1986-11       Impact factor: 8.327

2.  Dopamine-beta-hydroxylase deficiency in humans.

Authors:  I Biaggioni; D S Goldstein; T Atkinson; D Robertson
Journal:  Neurology       Date:  1990-02       Impact factor: 9.910

3.  Early osseous abnormalities in Menkes' kinky hair syndrome.

Authors:  K Kozlowski; R McCrossin
Journal:  Pediatr Radiol       Date:  1979-07-24

4.  Age- and sex-specific pediatric reference intervals and correlations for zinc, copper, selenium, iron, vitamins A and E, and related proteins.

Authors:  G Lockitch; A C Halstead; L Wadsworth; G Quigley; L Reston; B Jacobson
Journal:  Clin Chem       Date:  1988-08       Impact factor: 8.327
  4 in total
  14 in total

1.  Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.

Authors:  Eun-Young Choi; Keyur Patel; Marie Reine Haddad; Ling Yi; Courtney Holmes; David S Goldstein; Amalia Dutra; Evgenia Pak; Stephen G Kaler
Journal:  JIMD Rep       Date:  2015-02-01

2.  Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.

Authors:  Suvimol C Hill; Andrew J Dwyer; Stephen G Kaler
Journal:  Pediatr Radiol       Date:  2012-07-24

Review 3.  Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated ATP7A gene therapy.

Authors:  Stephen G Kaler; Courtney S Holmes
Journal:  Adv Pharmacol       Date:  2013

4.  Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Authors:  Stephen G Kaler; Clarissa J Liew; Anthony Donsante; Julia D Hicks; Susumu Sato; Jacquelyn C Greenfield
Journal:  J Inherit Metab Dis       Date:  2010-07-21       Impact factor: 4.982

5.  Screening for Menkes disease using the urine HVA/VMA ratio.

Authors:  M Matsuo; R Tasaki; H Kodama; Y Hamasaki
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

6.  In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.

Authors:  Marie Reine Haddad; Charles J Macri; Courtney S Holmes; David S Goldstein; Beryl E Jacobson; Jose A Centeno; Edwina J Popek; Willam A Gahl; Stephen G Kaler
Journal:  Mol Genet Metab       Date:  2012-05-18       Impact factor: 4.797

Review 7.  Translational research investigations on ATP7A: an important human copper ATPase.

Authors:  Stephen G Kaler
Journal:  Ann N Y Acad Sci       Date:  2014-04-15       Impact factor: 5.691

8.  ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase.

Authors:  Katharina Schmidt; Martina Ralle; Thomas Schaffer; Samuel Jayakanthan; Bilal Bari; Abigael Muchenditsi; Svetlana Lutsenko
Journal:  J Biol Chem       Date:  2018-10-19       Impact factor: 5.157

9.  Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.

Authors:  Stephen G Kaler
Journal:  J Trace Elem Med Biol       Date:  2014-08-28       Impact factor: 3.849

10.  Neonatal diagnosis and treatment of Menkes disease.

Authors:  Stephen G Kaler; Courtney S Holmes; David S Goldstein; Jingrong Tang; Sarah C Godwin; Anthony Donsante; Clarissa J Liew; Susumu Sato; Nicholas Patronas
Journal:  N Engl J Med       Date:  2008-02-07       Impact factor: 91.245
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