(Q50922064)

25 March 2018

title

A progressive neurologic disorder with supranuclear vertical gaze paresis and distinctive bone marrow cells. (English)

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25 March 2018

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F L Yan-Go

1

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25 March 2018

T Yanagihara

series ordinal

2

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25 March 2018

R V Pierre

series ordinal

3

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25 March 2018

N P Goldstein

series ordinal

4

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25 March 2018

language of work or name

English

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publication date

1 June 1984

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25 March 2018

published in

Mayo Clin Proc

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25 March 2018

volume

59

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25 March 2018

issue

6

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25 March 2018

page(s)

404-410

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25 March 2018

Progressive paresis of vertical gaze in lipid storage disease

cites work

1 reference

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A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients

7 January 2021

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Sea-blue histiocytes and sural nerve in neurovisceral storage disorder with vertical ophthalmoplegia

7 January 2021

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Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American Children. Juvenile variant of Niemann-Pick Disease with foamy and sea-blue histiocytes

7 January 2021

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Juvenile Niemann-Pick disease with vertical supranuclear ophthalmoplegia. Two cases reports and review of the literature

7 January 2021

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A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly, and abnormal copper metabolism

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Niemann-Pick disease: a review of eighteen patients.

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The juvenile form of Niemann-Pick disease

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Juvenile dystonic lipidosis: An unusual form of neurovisceral storage disease

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Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)

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Adult dystonic lipidosis: clinical, histologic, and biochemical findings of a neurovisceral storage disease.

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An electronmicroscopical study of a case of atypical cerebral lipidosis.

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The syndrome of the sea-blue histiocyte

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Adult Niemann-Pick disease: its relationship to the syndrome of the sea-blue histiocyte

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Biochemical, genetic and ultrastructural study of a family with the sea‐blue histiocyte syndrome/chronic non‐neuronopathic Niemann‐ Pick disease

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Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease

7 January 2021

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Sea-blue histiocyte associated with posterior column dysfunction in childhood

7 January 2021

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Sea-blue histiocytes in marrow in Batten-Spielmeyer-Vogt disease

7 January 2021

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Sea-blue histiocyte and posterior column dysfunction: A familial disorder

7 January 2021

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A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

7 January 2021

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Sphingomyelinase defect in niemann-pick disease, type C, fibroblasts

7 January 2021

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Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation

7 January 2021

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The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

7 January 2021

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7 January 2021

Paralysis of down-gaze

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10.1016/S0025-6196(12)61464-5

7 January 2021

Identifiers

DOI

1 reference

25 March 2018

1 reference

25 March 2018