- Psychiatric symptoms in alpha-mannosidosisD Malm
Institute of Clinical Medicine, University Hospital of Tromsoe, Norway
J Intellect Disabil Res 49:865-71. 2005..These should not be dismissed as part of the ID but should give rise to the initiation of adequate diagnostic work-up, treatment and support...
- Alpha-mannosidosisDag Malm
Department of Gastroenterology, University Hospital of North Norway, NO 9038, Norway
Orphanet J Rare Dis 3:21. 2008..No patients manage to be completely socially independent. Many patients are over 50 years of age...
- alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblingsO Nilssen
Department of Medical Genetics, University Hospital and University of Tromso, Norway
Hum Mol Genet 6:717-26. 1997..Two affected siblings of Palestinian origin were homozygous for a mutation that causes a His-->Leu replacement at a position which is conserved among class 2 alpha-mannosidases from several species...
- Spectrum of mutations in alpha-mannosidosisT Berg
Department of Medical Genetics, University Hospital and University of Tromso, N 9037, Norway
Am J Hum Genet 64:77-88. 1999..In addition, no correlation between the types of mutations and the clinical manifestations was evident...