Add to ORKGFucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of α-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had ...
Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal stor...
BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficien...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-gl...
PubMedID: 15214749Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a ...
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 (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with ...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
A 5-year-old girl, the product of nonconsanguineous marriage, presented with early-onset intellectua...
PurposeTo describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storag...
BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder and...
Fucosidosis is a rare, autosomal recessive lysosomal storage disease resulting from a deficiency of ...
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder resulting from a deficiency o...
WOS: 000377110800007PubMed ID: 26908836Background Mucopolysaccharidosis VII (MPS VII) is an ultra-ra...
Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal stor...
BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficien...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-gl...
PubMedID: 15214749Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a ...
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 (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
Fucosidosis is a rare lysosomal storage disorder characterized by deficiency of α-L-fucosidase with ...
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FU...
A 5-year-old girl, the product of nonconsanguineous marriage, presented with early-onset intellectua...
PurposeTo describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storag...
BACKGROUND AND OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder and...
Fucosidosis is a rare, autosomal recessive lysosomal storage disease resulting from a deficiency of ...
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder resulting from a deficiency o...
WOS: 000377110800007PubMed ID: 26908836Background Mucopolysaccharidosis VII (MPS VII) is an ultra-ra...
Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal stor...
BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficien...
Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-gl...