Recent Publications on Beta-Mannosidosis: |  |
Beta-mannosidosis: A new cause of spinocerebellar ataxia.
beta-Mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder...
Direct Link | 5th November, 2008
| Service de Neurologie CHU de 30029 Nimes Nimes Cedex, France.
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Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Beta-mannosidosis (OMIM # 248510) is an autosomal-recessive lysosomal...
Direct Link | 15th August, 2008
| Department of Medical Genetics, University Hospital of Northern Norway,
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Molecular cloning and structural organization of the gene encoding the mouse lysosomal di-N-acetylchitobiase (ctbs).
The lysosomal enzyme di-N-acetylchitobiase hydrolyzes N-acetylglucosamine...
Direct Link | 1st August, 2008
| Dipartimento di Medicina Interna, Universita degli Studi di Perugia, Via
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Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.
Inborn errors of metabolism (IEMs) may present in adolescence or adulthood...
Direct Link | 27th October, 2007
| Federation of Nervous System Diseases, Hopital de la Salpetriere, 47
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Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
BACKGROUND: Human beta-mannosidosis, a rare disorder of oligosaccharide...
Direct Link | 19th September, 2007
| Department of Dermatology, Hadassah-Hebrew University Medical Center,
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Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
beta-Mannosidosis is a lysosomal storage disorder caused by deficiency of...
Direct Link | 24th January, 2007
| Institut de Bioquimica Clinica, Hospital Clinic, Corporacio Sanitaria
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Beta-mannosidosis mice: a model for the human lysosomal storage disease.
Beta-mannosidase, a lysosomal enzyme which acts exclusively at the last...
Direct Link | 14th April, 2006
| Department of Microbiology and Genetics, Michigan State University, East
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Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.
BACKGROUND: beta-Mannosidosis is a rare inborn error of metabolism with...
Direct Link | 3rd March, 2006
| Federation de Neurologie, Groupe Hospitalier Pitie-Salpetriere, Paris,
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| Beta-mannosidosis with angiokeratoma corporis diffusum.
| 25th March, 2005
| Division of Dermatology, Hiratsuka City Hospital, Kanagawa, Japan.
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| Beta-mannosidae deficiency in two mentally retarded girls with intractable seizures.
| 16th February, 2005
| Saudi Aramco Medical Services Organization, Ras Tanura, Saudi Arabia.
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The relationship between beta-mannosidase and endo-beta-mannanase activities in tomato seeds during and following germination: a comparison of seed populations and individual seeds.
beta-Mannosidase and endo-beta-mannanase are involved in the mobilization...
Direct Link | 22nd January, 2004
| Department of Botany, University of Guelph, Guelph, Ontario, N1G 2W1,
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| Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.
| 10th October, 2003
| Department of Dermatology, Kagoshima University Faculty of Medicine,
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| Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.
| 20th June, 2003
| Department of Microbiology and Molecular Genetics, 5163 Biomedical and
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