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Mucolipidosis Type IV

Known as: MUCOLIPIDOSIS IV, SIALOLIPIDOSIS, ML IV 
An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and… Expand
National Institutes of Health

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Highly Cited
2008
Highly Cited
2008
TRPML1 (mucolipin 1, also known as MCOLN1) is predicted to be an intracellular late endosomal and lysosomal ion channel protein… Expand
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Highly Cited
2008
Highly Cited
2008
Disruption of the Transient Receptor Potential (TRP) mucolipin 1 (TRPML1) channel results in the neurodegenerative disorder… Expand
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Highly Cited
2008
Highly Cited
2008
Mutations in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by… Expand
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Highly Cited
2007
Highly Cited
2007
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene, which… Expand
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Highly Cited
2006
Highly Cited
2006
Mucolipidosis type IV (MLIV) is an autosomal recessive disease characterized by severe neurological impairment, ophthalmologic… Expand
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Highly Cited
2002
Highly Cited
2002
BackgroundMucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for… Expand
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Review
2001
Review
2001
  • G. Bach
  • Molecular genetics and metabolism
  • 2001
  • Corpus ID: 23951484
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and… Expand
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic… Expand
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder characterized by… Expand
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation… Expand
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