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Hypoprebetalipoproteinemia

A condition with abnormally low levels of PREBETA-LIPOPROTEINS in the blood.
National Institutes of Health

Papers overview

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2014
2014
We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia… Expand
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2014
2014
A 16-year-old boy presented to our hospital with 4-yearhistory of generalized dystonia (predominantly craniocervical and upper… Expand
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Review
2008
Review
2008
Neuroacanthocytosis is an inclusive term for a genetically heterogeneous group of disorders characterized by the association of… Expand
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2006
2006
Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an… Expand
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2004
2004
INTRODUCTION Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron… Expand
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Highly Cited
2003
Highly Cited
2003
The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration… Expand
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Highly Cited
2002
Highly Cited
2002
Abstract—HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome… Expand
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1996
1996
We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia… Expand
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1995
1995
Article abstract-We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebetalipoproteinemia… Expand
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Highly Cited
1992
Highly Cited
1992
We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and… Expand
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