ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00577.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00578.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractSeveral genetic neurological diseases involve primarily myelin or the myelin supporting cell, i.e. the oligodendrocyte in the central nervous system, or the Schwann cell in the peripheral nervous system. Biochemical studies of these diseases are still scarce and post‐mortem findings are often difficult to interpret on account of non‐specific pre‐mortem changes. Experimental models appear particularly useful, especially murine species which myelinate post‐natally in the brain. The discovery of mutations in the mouse whose phenotypic expression involves mainly myelination has provided a new tool to study the genetic pathology of

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00579.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00580.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractGenetic deficiency of galactosylceramidase is known to occur in man (globoid cell leukodystrophy, Krabbe disease), sheep, dog and mouse (twitcher). As expected from the same underlying cause, the clinical, pathological and biochemical manifestations are fundamentally similar in all species. Since the human disease is rare and since ethical considerations severely restrict the nature of studies feasible with the human disease, these genetically authentic animal models provide invaluable tools for research on globoid cell leukodystrophy. On the other hand, manifestations of the disease are not identical in all species despite the same genetic cause. Such species differences must be carefully taken into consideration when experimental results on the animal models are extrapolated to the human disease.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00581.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractIn the newly discovered Niemann‐Pick affected mice, sphingomyelinase and phosphodiesterase activities in clipped tail homogemates failed to help determine the genetic status of this disease, which is characterized by a sphingomyelinase deficiency. The cause for this failure might be the existence of neutral sphingomyelinase which contributed to a wide scatter of the results. The age of the specimens probably had no effect on those results. Finally, during tail enzyme analysis, Bis‐(4MU)‐pyrophosphatase activity in an affected liver showed different characteristics than a normal

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00582.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractGalactosialidosis is a recently established heredodegenerative disease occurring in adults, characterized by cerebellar ataxia, myoclonus, cherry‐red spots, angiokeratoma and deficiencies of two lysosomal enzymes, β‐galactosidase and neuraminidase. Results of recent investigations are briefly reviewed and the molecular basis of this new disease is discu

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00583.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractEighty‐eight children with congenital rubella syndrome (aged 10 0/12 years to 10 11/12 years) and 73 normal children (aged 9 11/12 years to 11 4/12 years), all born in the Ryukyu Islands of Southern Japan, were assessed for their bone ages and heights. No significancy was noted between the development of the bone ages of the two groups studied, despite a difference between the heights of the two group

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00584.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

AbstractTubuloreticular structure was found in 3 and 30% of the lymphoid cells from two consecutive cases of MCLS and in 10 and 15% of the lymphoid cells from two consecutive cases of aplastic anemia. Parallel tubular array was found in 8 and 24% of the lymphoid cells from the cases of MCLS and in 3% of the lymphoid cells from the cases of aplastic anemia. The possibility of the viral etiology of the both diseases was discussed.eases was discussed.

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00585.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1983.tb00586.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY