A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
alpha fucosidase deficiency
[lysosomal storage disease caused by defective alpha-L-fucosidase and accumulation of fucose containing glycoconjugates; clinical symptoms include psychomotor deterioration, growth retardation, hepatosplenomegaly, cardiomegaly, and seizures. ( CSP )]
UMLS (CSP) C0016788- Disease or Syndrome
Relation/PAR: Carbohydrate Metabolism, Inborn Errors
inborn lysosomal enzyme disorder
enzyme deficiency
Lysosomal Storage Diseases, Nervous System
inborn lysosomal enzyme disorder
enzyme deficiency
Lysosomal Storage Diseases, Nervous System
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