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Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

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Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Rossi, Malco Damián et al · Elsevier Science · 2017 · ISSN 0022-510X

Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of a...

Idioma eng

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Localized scleroderma – classification and tools used for the evaluation of tissue damage and disease activity/severity

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Localized scleroderma – classification and tools used for the evaluation of tissue damage and disease activity/severity

Katarzyna Wolska-Gawron et al · Termedia Publishing House · 2017 · ISSN 0033-2526

Localized scleroderma is a rare autoimmune disorder affecting the dermis, subcutaneous tissue and deeper structures. The course of localized scleroderma includes three stages: early inflammation, progressive sclerosis an...

LCC LCC:Medicine; LCC:DermatologyIdioma eng

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