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Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Arjona Aguilera C, Albarrán Planelles C, Tercedor Sánchez J. Arjona Aguilera C, et al. Actas Dermosifiliogr. 2016 Mar;107(2):116-24. doi: 10.1016/j.ad.2015.09.013. Epub 2015 Dec 1. Actas Dermosifiliogr. 2016. PMID: 26593686 Free article. English, Spanish.
The association of moderate to severe eczema and elevated plasma levels of immunoglobulin E is a characteristic not only of atopic dermatitis but also of various genodermatoses: hyperimmunoglobulin E syndromes, Omenn syndrome, Netherton syndrome, peeling skin syndrome type B, sev …
The association of moderate to severe eczema and elevated plasma levels of immunoglobulin E is a characteristic not only of atopic dermatiti …
Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules.
Auray-Blais C, Cyr D, Drouin R. Auray-Blais C, et al. J Inherit Metab Dis. 2007 Aug;30(4):515-21. doi: 10.1007/s10545-007-0607-x. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17570073
.); the second group relates to disorders of amino acid metabolism (cystathioninuria, prolidase deficiency, etc.) and transport (Fanconi syndrome, cystinurias, Hartnup syndrome, etc.). ...
.); the second group relates to disorders of amino acid metabolism (cystathioninuria, prolidase deficiency, etc.) and transpor …