Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens (Q57523078)

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21 December 2019

title

Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens (English)

1 reference

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neuronal ceroid lipofuscinosis

21 December 2019

main subject

diagnosis

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1 reference

5

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21 December 2019

author name string

Anderson GW

1

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21 December 2019

Smith VV

2

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21 December 2019

Brooke I

3

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21 December 2019

Malone M

4

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21 December 2019

publication date

1 September 2006

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Ultrastructural Pathology

21 December 2019

published in

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21 December 2019

volume

30

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21 December 2019

issue

5

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21 December 2019

page(s)

373-378

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The genetic spectrum of human neuronal ceroid-lipofuscinoses

21 December 2019

cites work

1 reference

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Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities

21 January 2018

1 reference

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Congenital ceroid-lipofuscinosis

21 January 2018

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Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.

21 January 2018

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Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

21 January 2018

1 reference

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Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.

21 January 2018

1 reference

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Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.

21 January 2018

1 reference

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Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

21 January 2018

1 reference

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CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

21 January 2018

1 reference

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The intracellular location and function of proteins of neuronal ceroid lipofuscinoses

21 January 2018

1 reference

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Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

21 January 2018

1 reference

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Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

21 January 2018

1 reference

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Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

21 January 2018

1 reference

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10.1080/01913120500406566

21 January 2018

Identifiers

DOI

1 reference

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21 December 2019

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