Publication date
January 2002
DOI Publisher
Springer Science and Business Media LLC Journal
Journal of Inherited Metabolic DiseaseAbstract
We report a 6-year-old boy with an intermediate form of fucosidosis.link_to_subscribed_fulltex
We report a 6-year-old boy with an intermediate form of fucosidosis.link_to_subscribed_fulltex
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether F...
Background: A previously unrecognized syndrome with congenital neutropenia and various organ abnorma...
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder resulting from a deficiency o...
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with ...
Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha- l -fucosid...
Poster Session - Clinical Practice (Diagnosis): no. 139Fucosidosis is a autosomal recessive neurodeg...
Fucosidosis is a rare lysosomal storage disease due to a nearly complete deficiency of a-L-fucosidas...
Abstract Background Fucosidosis is an autosomal recessive lysosomal storage disease caused by defect...
Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency ...
PubMedID: 25239688Leukocyte adhesion deficiencies (LAD) are autosomal recessive immunodeficiency syn...
Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, dependi...
Congenital FXI deficiency (hemophilia C) is a rare bleeding disorder that has been documented mostly...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fucosidosis is a rare, autosomal recessive lysosomal storage disease resulting from a deficiency of ...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether F...
Background: A previously unrecognized syndrome with congenital neutropenia and various organ abnorma...
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder resulting from a deficiency o...
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with ...
Fucosidosis is a rare lysosomal storage disease, resulting from a deficiency in an alpha- l -fucosid...
Poster Session - Clinical Practice (Diagnosis): no. 139Fucosidosis is a autosomal recessive neurodeg...
Fucosidosis is a rare lysosomal storage disease due to a nearly complete deficiency of a-L-fucosidas...
Abstract Background Fucosidosis is an autosomal recessive lysosomal storage disease caused by defect...
Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency ...
PubMedID: 25239688Leukocyte adhesion deficiencies (LAD) are autosomal recessive immunodeficiency syn...
Fucosidosis is a rare lysosomal storage disease which has been classified into two subtypes, dependi...
Congenital FXI deficiency (hemophilia C) is a rare bleeding disorder that has been documented mostly...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fucosidosis is a rare, autosomal recessive lysosomal storage disease resulting from a deficiency of ...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. To see whether F...
Background: A previously unrecognized syndrome with congenital neutropenia and various organ abnorma...
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder resulting from a deficiency o...
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