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Batten Disease : Diagnosis, Treatment, and Research / edited by Krystyna E. Wisniewski, Nanbert Zhong.

Contributor(s): Series: Advances in genetics ; v. 45.Publisher: San Diego : Academic Press, 2001Description: 1 online resource (xiii, 243 pages) : illustrationsContent type:
  • text
Media type:
  • computer
Carrier type:
  • online resource
ISBN:
  • 9780080490311
  • 008049031X
  • 0120176459
  • 9780120176458
Subject(s): Genre/Form: Additional physical formats: Print version:: Batten disease.LOC classification:
  • RC632.N47 B38 2001eb
NLM classification:
  • W1
  • WD 205.5.L5
Online resources:
Contents:
Neuronal ceroid lipofuscinoses: classification and diagnosis -- Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses -- Positional candidate gene cloning of CLN1 -- Biochemistry of neuronal ceroid lipofuscinoses -- Positional cloning of the JNCL gene, CLN3 -- Studies of homogenous populations: CLN5 and CLN8 -- Molecular genetic testing for neuronal ceroid lipofuscinoses -- Genetic counseling in the neuronal ceroid lipofuscinoses -- Neurotrophic factors as potential therapeutic agents in neuronal ceroid lipofuscinosis -- Animal models for the ceroid lipofuscinoses -- Experimental models of NCL: the yeast model -- Outlook for future treatment.
Summary: This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.
Item type: eBooks
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Text in English.

Includes bibliographical references and index.

Neuronal ceroid lipofuscinoses: classification and diagnosis -- Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses -- Positional candidate gene cloning of CLN1 -- Biochemistry of neuronal ceroid lipofuscinoses -- Positional cloning of the JNCL gene, CLN3 -- Studies of homogenous populations: CLN5 and CLN8 -- Molecular genetic testing for neuronal ceroid lipofuscinoses -- Genetic counseling in the neuronal ceroid lipofuscinoses -- Neurotrophic factors as potential therapeutic agents in neuronal ceroid lipofuscinosis -- Animal models for the ceroid lipofuscinoses -- Experimental models of NCL: the yeast model -- Outlook for future treatment.

Print version record.

This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.

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