Literature DB >> 15816696

Menke's kinky hair syndrome--a rare medical condition.

Yaseer Al-Bitar1, Tania Azam.   

Abstract

The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke's disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months.

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Year:  2005        PMID: 15816696

Source DB:  PubMed          Journal:  J Pak Med Assoc        ISSN: 0030-9982            Impact factor:   0.781


  4 in total

Review 1.  Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function.

Authors:  Danielle Bousquet-Moore; Richard E Mains; Betty A Eipper
Journal:  J Neurosci Res       Date:  2010-09       Impact factor: 4.164

Review 2.  The neurology of enteric disease.

Authors:  A J Wills; D S N A Pengiran Tengah; G K T Holmes
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-03-30       Impact factor: 10.154

3.  Interactions of peptide amidation and copper: novel biomarkers and mechanisms of neural dysfunction.

Authors:  Danielle Bousquet-Moore; Joseph R Prohaska; Eduardo A Nillni; Traci Czyzyk; William C Wetsel; Richard E Mains; Betty A Eipper
Journal:  Neurobiol Dis       Date:  2009-10-06       Impact factor: 5.996

4.  Serum copper, ceruloplasmin and 24-h urine copper evaluations in celiac patients.

Authors:  Ali Tüzün Ince; Hüseyin Kayadibi; Aliye Soylu; Oya Ovunç; Mustafa Gültepe; Ahmet Burak Toros; Bülent Yaşar; Tulin Kendir; Evren Abut
Journal:  Dig Dis Sci       Date:  2008-06       Impact factor: 3.199

  4 in total

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