Search Results - (Author, Cooperation:M. J. Finegold)

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  1. 1
    Staff View
    Publication Date:
    2013-01-29
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Alleles ; Animals ; Bile Ducts/cytology/metabolism ; Cell Lineage ; Clone Cells/cytology/metabolism ; Culture Media/chemistry/metabolism ; Disease Models, Animal ; Female ; Gene Knock-In Techniques ; Hepatocytes/*cytology/*metabolism/pathology ; Hydrolases/deficiency/genetics ; Liver/cytology/metabolism/pathology ; Liver Diseases/metabolism/pathology ; Male ; Mice ; Multipotent Stem Cells/cytology/metabolism ; Organoids/cytology/transplantation ; Receptors, G-Protein-Coupled/agonists/deficiency/genetics/*metabolism ; *Regeneration ; Stem Cells/*cytology/*metabolism ; Thrombospondins/deficiency/genetics/metabolism ; Tyrosinemias/metabolism/pathology ; *Wnt Signaling Pathway
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Key words: Niemann-Pick disease type C – Sphyngomyelin-cholesterol lipidosis – Neonatal hepatitis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract. Niemann-Pick disease type C (NPC) presents in about half of the cases in the newborn period with jaundice, hepato-splenomegaly, and a clinical pattern similar to neonatal hepatitis. The definitive diagnosis can in most instances be made by the appropriate biochemical testing of lipoprotein stimulated cholesteryl ester synthesis and cholesterol accumulation in cultured patient fibroblasts. We report two infants who by liver biopsy had classical findings of NPC and a cholesteryl ester synthesis level about 50% of the normal lower limit. On the other hand neither of these patients' fibroblasts showed any evidence of low density lipoprotein-induced cholesterol accumulation, precluding the possibility of a definitive diagnosis. These cases demonstrate the importance of the appropriate biochemical testing before final counseling is carried out. The possibility of our patients representing allelic or non-allelic variants of NPC are discussed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01956417

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    1432-1076
    Keywords:
    Niemann-Pick disease type C ; Sphyngomyelin-cholesterol lipidosis ; Neonatal hepatitis
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract Niemann-Pick disease type C (NPC) presents in about half of the cases in the newborn period with jaundice, hepato-splenomegaly, and a clinical pattern similar to neonatal hepatitis. The definitive diagnosis can in most instances be made by the appropriate biochemical testing of lipoprotein stimulated cholesteryl ester synthesis and cholesterol accumulation in cultured patient fibroblasts. We report two infants who by liver biopsy had classical findings of NPC and a cholesteryl ester synthesis level about 50% of the normal lower limit. On the other hand neither of these patients' fibroblasts showed any evidence of low density lipoprotein-induced cholesterol accumulation, precluding the possibility of a definitive diagnosis. These cases demonstrate the importance of the appropriate biochemical testing before final counseling is carried out. The possibility of our patients representing allelic or nonallelic variants of NPC are discussed.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF01956417

    Articles: DFG German National Licenses