Yunis-Varon syndrome: evidence for a lysosomal storage disease.

Walch, E; Schmidt, M; Brenner, R E; Emons, D; Dame, C; Pontz, B; Wiestler, O D; Bartmann, P

Walch, E; Schmidt, M; Brenner, R E; Emons, D; Dame, C; Pontz, B; Wiestler, O D; Bartmann, P.

Affiliation

Walch E; Children's Hospital, University of Bonn, Bonn, Germany. Ewalch@yahoo.com

Am J Med Genet ; 95(2): 157-60, 2000 Nov 13.

Article in En | MEDLINE | ID: mdl-11078567

Subject(s)

Lysosomal Storage Diseases/diagnosis; Abnormalities, Multiple/diagnosis; Autopsy; Bone and Bones/abnormalities; Brain/abnormalities; Brain/ultrastructure; Carbohydrates/urine; Chromatography, Thin Layer; Dandy-Walker Syndrome/diagnosis; Fatal Outcome; Female; Hand Deformities, Congenital/diagnosis; Humans; Hydrocephalus/diagnosis; Hypertension/diagnosis; Infant; Lysosomal Storage Diseases/urine; Microcephaly/diagnosis; Microscopy, Electron; Neuraminic Acids/urine; Neurons/cytology; Oligosaccharides/urine; Syndrome

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Database: MEDLINE Main subject: Lysosomal Storage Diseases Type of study: Diagnostic_studies Limits: Female / Humans / Infant Language: En Year: 2000 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Lysosomal Storage Diseases Type of study: Diagnostic_studies Limits: Female / Humans / Infant Language: En Year: 2000 Type: Article