Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

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Brain imaging in Kufs disease type B: case reports.Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).Novel compound heterozygous mutations causing Kufs disease type B.

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P2860

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

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P2860

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

A perivascular origin for mesenchymal stem cells in multiple human organs

[Kufs-disease; a rare cause of early-onset dementia]

Lipofuscin-like granules of the juxtaglomerular apparatus of the kidney. The diagnostic significance of a quasi-normal subcellular structure incidentally encountered in the course of routine ultrastructural evaluation of renal biopsies.

Familial Kufs' disease presenting as a progressive myoclonic epilepsy.

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease.

Current state of clinical and morphological features in human NCL.

Kufs' disease: a critical reappraisal.

A case of childhood Kufs' disease

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10.1111/J.1468-1331.2012.03748.X

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Antonio Gambardella

Gianandrea Pasquinelli

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Aldo Quattrone

Umberto Aguglia

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2012-05-08T00:00:00Z

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Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

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P2860

P2860

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

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