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7. Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease. Králík L; Flachsová E; Hansíková H; Saudek V; Zeman J; Martásek P Folia Biol (Praha); 2017; 63(5-6):165-173. PubMed ID: 29687769 [TBL] [Abstract][Full Text] [Related]
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11. Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. Proud VK; Mussell HG; Kaler SG; Young DW; Percy AK Am J Med Genet; 1996 Oct; 65(1):44-51. PubMed ID: 8914740 [TBL] [Abstract][Full Text] [Related]
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14. Cervical spine disorders in infants and children. Copley LA; Dormans JP J Am Acad Orthop Surg; 1998; 6(4):204-14. PubMed ID: 9682083 [TBL] [Abstract][Full Text] [Related]
15. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. Kaler SG; Liew CJ; Donsante A; Hicks JD; Sato S; Greenfield JC J Inherit Metab Dis; 2010 Oct; 33(5):583-9. PubMed ID: 20652413 [TBL] [Abstract][Full Text] [Related]
16. Menkes disease in affected females: the clinical disease spectrum. Smpokou P; Samanta M; Berry GT; Hecht L; Engle EC; Lichter-Konecki U Am J Med Genet A; 2015 Feb; 167A(2):417-20. PubMed ID: 25428120 [TBL] [Abstract][Full Text] [Related]