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Hypoprebetalipoproteinemia

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

Related topics

Related topics

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Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Cerebellar atrophy in neuroacanthocytosis
We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia… Expand
2010
2010
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration (HARP Syndrome)
HARP is the rare clinical syndrome of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration… Expand
Review
2008
Review
2008
[Neuroacanthocytosis update].
Neuroacanthocytosis is an inclusive term for a genetically heterogeneous group of disorders characterized by the association of… Expand
2006
2006
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease
Mutations in the pantothenate kinase 2 gene (PANK2) are the cause of pantothenate kinase associated neurodegeneration (PKAN), an… Expand
2004
2004
[Tourettism, hemiballism and juvenile Parkinsonism: expanding the clinical spectrum of the neurodegeneration associated to pantothenate kinase deficiency (Hallervorden Spatz syndrome)].
INTRODUCTION Pantothenate kinase deficiency (Hallervorden-Spatz syndrome, HSS) triggers cerebral neurodegeneration with iron… Expand
Highly Cited
2003
Highly Cited
2003
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration… Expand
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Highly Cited
2002
Highly Cited
2002
HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration
Abstract—HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) is a rare syndrome… Expand
1996
1996
Acanthocytosis, retinitis pigmentosa, pallidal degeneration. Report of two cases without serum lipid abnormalities
We describe two unrelated patients with Hallervorden-Spatz, disease characterized by prominent facio-bucco-lingual dyskinesia… Expand
Highly Cited
1995
Highly Cited
1995
Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration
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
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)
We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and… Expand
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