The natural course and complications of alpha-mannosidosis - A retrospective and descriptive study

Journal of Inherited Metabolic Disease

Volumn 37, Issue 1, 2014, Pages 79-82

  Malm, Dag ^a   Riise Stensland, Hilde Monica Frostad ^b   Edvardsen, Øyvind ^c   Nilssen, Øivind ^b,d  

^a Tromsø Centre of Internal Medicine (TIS As)   (Norway)

^b UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^c NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^d UNIVERSITY OF TROMSØ   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTHRITIS; ARTICLE; AUTOIMMUNE DISEASE; BONE DISEASE; CHILD; CLINICAL FEATURE; COLUMNARIS DISEASE; DESCRIPTIVE RESEARCH; DISEASE COURSE; FACE DYSMORPHIA; HEALTH STATUS; HEARING IMPAIRMENT; HUMAN; INFANT; MAJOR CLINICAL STUDY; MANNOSIDOSIS; MENTAL DISEASE; MOTOR PERFORMANCE; MYOPATHY; NEWBORN; PRESCHOOL CHILD; PROGNOSIS; PSYCHOSIS; QUESTIONNAIRE; SCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-MANNOSIDOSIS; CHILD; CHILD, PRESCHOOL; DATA COLLECTION; DISEASE PROGRESSION; FACIES; HEARING LOSS; HUMANS; INFANT; INFANT, NEWBORN; MENTAL DISORDERS; MIDDLE AGED; MUSCULAR DISEASES; PROGNOSIS; PSYCHOTIC DISORDERS; QUESTIONNAIRES; RETROSPECTIVE STUDIES; TIME FACTORS; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84891825949     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9622-2     Document Type: Article

References (11)

1. Berg T, Riise HM, Hansen GM et al (1999) Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet 64(1):77-88
2. Chester MA, Lundblad A, Öckerman PA et al (1982) Mannosidosis. In: Duran P, O'Brien JF (eds) Genetic errors of glyco-protein metabolism. Edi-Hermes, Milan, pp 89-120
3. Heikinheimo P, Helland R, Leiros HK et al (2003) The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation. J Mol Biol 327(3):631-644
4. Malm D, Nilssen Ø (2008-2011) Alpha-mannosidosis. Orphanet J Rare Dis 3:21. http://www.ojrd.com/content/3/1/21 (23 July 2008)
5. Malm D, Halvorsen DS, Tranebjaerg L et al (2000) Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes. Eur J Pediatr 159(9):699-703
6. Meikle PJ, Ranieri E, Simonsen H et al (2004) Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 114(4):909-991
7. Nilssen Ø, Berg T, Riise HM et al (1997) alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet 6(5):717-726
8. Poupetová H, Ledvinová J, Berná L et al (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33:387-396
9. Riise Stensland HMF, Klenow H, Hguyen LU et al (2012) Identification of 83 novel alpha-mannosidosis associated sequence variants: functional analysis of MAN2B1 missence mutations. Hum Mutat 33(3):511-520
10. Schultz ML, Tecedor L, Chang M et al (2011) Clarifying lysosomal storage diseases. Trends Neurosci 34:401-410
11. Tollersrud OK, Berg T, Healy P et al (1997) Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis. Eur J Biochem 246(2):410-419