Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria.

Arvio, P; Arvio, M; Kero, M; Pirinen, S; Lukinmaa, P L

Arvio, P; Arvio, M; Kero, M; Pirinen, S; Lukinmaa, P L.

Affiliation

Arvio P; Pääjärvi Centre, Ronni, Finland.

J Med Genet ; 36(5): 398-404, 1999 May.

Article in En | MEDLINE | ID: mdl-10353787

Subject(s)

Acetylglucosamine/analogs & derivatives; Aspartylglucosaminuria; Lysosomal Storage Diseases/pathology; Mouth Mucosa/pathology; Skin/pathology; Acetylglucosamine/urine; Adolescent; Adult; Angiofibroma/pathology; Aspartylglucosylaminase/analysis; Aspartylglucosylaminase/genetics; Child; Child, Preschool; Face; Facial Neoplasms/pathology; Fibroma/pathology; Finland; Gingiva/pathology; Humans; Immunohistochemistry; Lysosomal Storage Diseases/enzymology; Lysosomal Storage Diseases/genetics; Middle Aged; Mouth Mucosa/enzymology; Skin Neoplasms/pathology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Acetylglucosamine / Skin / Lysosomal Storage Diseases / Aspartylglucosaminuria / Mouth Mucosa Limits: Adolescent / Adult / Child / Child, preschool / Humans / Middle aged Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 1999 Document type: Article Affiliation country: Finland Country of publication: United kingdom

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