Alpha-mannosidosis-A review of genetic, clinical findings and options of treatment

Pediatric Endocrinology Reviews

Volumn 12, Issue , 2014, Pages 185-191

  Borgwardt, Line ^a   Lund, Allan Meldgaard ^a   Dali, Christine I ^a  

^a University of Copenhagen   (Denmark)

Author keywords

Activity of daily living; Alpha mannosidosis; Clinical findings; Enzyme replacement therapy; Haematopoietic Stem Cell Transplantation HSCT.; MAN2B1; Symptomatic treatment

Indexed keywords

ALPHA MANNOSIDASE;

ARTICLE; CELL FUNCTION; CLINICAL FEATURE; DAILY LIFE ACTIVITY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FUNCTIONAL STATUS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HIP DISLOCATION; HIP DYSPLASIA; HUMAN; IMMUNE DEFICIENCY; INTELLECTUAL IMPAIRMENT; KYPHOSIS; LUNG INFECTION; LYSOSOME; MANNOSIDOSIS; MENTAL DETERIORATION; MENTAL DISEASE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NONSENSE MUTATION; OSTEOARTHRITIS; OSTEOPENIA; PALLIATIVE THERAPY; PATELLA DISLOCATION; PATHOGENESIS; PHASE 3 CLINICAL TRIAL (TOPIC); PHENOTYPIC VARIATION; PIGEON THORAX; PRENATAL DIAGNOSIS; PREVALENCE; RECURRENT INFECTION; SCOLIOSIS; SEROUS OTITIS MEDIA; SKELETON MALFORMATION; SPEECH DISORDER; UPPER RESPIRATORY TRACT INFECTION; VALGUS KNEE; GENETICS; REVIEW;

ALPHA-MANNOSIDOSIS; ENZYME REPLACEMENT THERAPY; HEARING LOSS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS;

EID: 84908241301     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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