Add to ORKGA neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. This article describes the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this rare disease and discusses the pathogenesis.peer-reviewe
Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme...
UNLABELLED: Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lyso...
Abstract. Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well ...
Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It...
Item does not contain fulltextA previously healthy 10-month-old boy was referred to our hospital bec...
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal ...
A previously healthy 10-month-old boy was referred to our hospital because of coarse facial features...
Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of ...
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected p...
I-cell disease (mucolipidosis II) is a rare lysosomal storage disease, with its primary defect the...
The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by th...
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy ...
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of ...
Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects i
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glyco...
Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme...
UNLABELLED: Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lyso...
Abstract. Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well ...
Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It...
Item does not contain fulltextA previously healthy 10-month-old boy was referred to our hospital bec...
Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal ...
A previously healthy 10-month-old boy was referred to our hospital because of coarse facial features...
Mucopolysaccharidosis type I (MPS I) is a rare inherited lysosomal disorder caused by deficiency of ...
Dilated Cardiomyopathy is an uncommon disease in children but morbidity and mortality in affected p...
I-cell disease (mucolipidosis II) is a rare lysosomal storage disease, with its primary defect the...
The Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders. They are characterized by th...
Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy ...
The mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders caused by the absence of ...
Mucolipidosis type II (MLII, MIM 252500) is a lysosomal storage disorders caused by defects i
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glyco...
Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme...
UNLABELLED: Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lyso...
Abstract. Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well ...