(Q52189149)

26 April 2018

title

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. (English)

1 reference

26 April 2018

author name string

Wisniewski KE

1

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26 April 2018

Connell F

2

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26 April 2018

Kaczmarski W

3

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26 April 2018

Kaczmarski A

4

1 reference

26 April 2018

Siakotos A

5

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26 April 2018

Becerra CR

6

1 reference

26 April 2018

Hofmann SL

7

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26 April 2018

publication date

1 February 1998

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26 April 2018

published in

Pediatric Neurology

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26 April 2018

volume

18

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26 April 2018

issue

2

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26 April 2018

page(s)

119-123

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26 April 2018

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

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Isolation of a novel gene underlying batten disease, CLN3

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A variant of Jansky-Bielschowsky disease

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The spectrum of Jansky-Bielschowsky disease.

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7 January 2021

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

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7 January 2021

Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations

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7 January 2021

Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms

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7 January 2021

Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis.

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7 January 2021

Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients.

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7 January 2021

Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.

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7 January 2021

Lysosomal targeting of palmitoyl-protein thioesterase

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7 January 2021

Assay and isolation of palmitoyl-protein thioesterase from bovine brain using palmitoylated H-Ras as substrate

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7 January 2021

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients

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7 January 2021

New subform of the late infantile form of neuronal ceroid lipofuscinosis

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7 January 2021

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

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7 January 2021

10.1016/S0887-8994(97)00173-2

Identifiers

DOI

1 reference

26 April 2018

PubMed ID

9535296

1 reference

26 April 2018