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40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1001/jama.1996.03540070057031" target="_blank" rel="noreferrer">http://doi.org/10.1001/jama.1996.03540070057031</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Niemann-Pick disease type C: From bench to bedside.
Publisher
An entity responsible for making the resource available
Jama
Date
A point or period of time associated with an event in the lifecycle of the resource
1996
Subject
The topic of the resource
Female; Humans; infant; Male; Adult; Disease Progression; Longitudinal Studies; Genetic Counseling; Newborn; Age of Onset; Cholesterol/metabolism; Esterification; Fibroblasts/pathology; Foam Cells/pathology; Histiocytes/pathology; Intelligence Tests; Jaundice; Neonatal/etiology; Nervous System Diseases/etiology; Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy; Splenomegaly/etiology
Creator
An entity primarily responsible for making the resource
Schiffmann R
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1001/jama.1996.03540070057031" target="_blank" rel="noreferrer">10.1001/jama.1996.03540070057031</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
1996
1996
Adult
Age of Onset
Backlog
Cholesterol/metabolism
Disease Progression
Esterification
Female
Fibroblasts/pathology
Foam Cells/pathology
Genetic Counseling
Histiocytes/pathology
Humans
Infant
Intelligence Tests
JAMA
Jaundice
Journal Article
Longitudinal Studies
Male
Neonatal/etiology
Nervous System Diseases/etiology
Newborn
Niemann-Pick Diseases/diagnosis/genetics/pathology/physiopathology/therapy
Schiffmann R
Splenomegaly/etiology
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Niemann-Pick disease type C: Two cases and an update.
Publisher
An entity responsible for making the resource available
Movement Disorders: Official Journal Of The Movement Disorder Society
Date
A point or period of time associated with an event in the lifecycle of the resource
2000
Subject
The topic of the resource
Female; Humans; Male; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Age of Onset; Cholesterol/metabolism; Esterification; Diagnosis; Differential; Cells; Cultured; Fibroblasts/metabolism; Niemann-Pick Diseases/diagnosis/physiopathology; Skin/pathology
Creator
An entity primarily responsible for making the resource
Uc EY; Wenger DA; Jankovic J
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
Description
An account of the resource
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
2000
Adolescent
Age of Onset
Backlog
Cells
Cholesterol/metabolism
Cultured
Diagnosis
Differential
Disease Progression
Esterification
Female
Fibroblasts/metabolism
Humans
Jankovic J
Journal Article
Longitudinal Studies
Male
Middle Aged
Movement Disorders: Official Journal Of The Movement Disorder Society
Niemann-Pick Diseases/diagnosis/physiopathology
Skin/pathology
Uc EY
Wenger DA