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Laboratory Animal Science
|
March 25, 1999
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta)
G B Baskin, M Ratterree, B B Davison, et al.
Biochimica Et Biophysica Acta
|
June 5, 1991
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol
C E Argoff, M E Comly, J Blanchette-Mackie, et al.
Human Mutation
|
June 20, 1998
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
S Ries, C Büchler, G Schindler, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2006
The natural history of Niemann-Pick disease type C in the UK
J Imrie, S Dasgupta, G T N Besley, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 1, 1993
Linkage of Niemann-Pick disease type C to human chromosome 18
E D Carstea, M H Polymeropoulos, C C Parker, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 1, 1988
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes
E J Blanchette-Mackie, N K Dwyer, L M Amende, et al.
Neurology
|
December 13, 2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia
M Timmons, M Tsokos, M Abu Asab, et al.
The New England Journal of Medicine
|
April 17, 1998
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy
W Krivit, E G Shapiro, C Peters, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]
C Morisot, G Millat, A Coeslier, et al.
La Revue De Medecine Interne
|
November 26, 2016
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]
O Lidove, N Belmatoug, R Froissart, et al.
Page
of 16
Search research articles
Search
Showing results (141-150 of 156) with videos related to
Sort By:
Page
of 16
Laboratory Animal Science
|
March 25, 1999
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta)
G B Baskin, M Ratterree, B B Davison, et al.
Biochimica Et Biophysica Acta
|
June 5, 1991
Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol
C E Argoff, M E Comly, J Blanchette-Mackie, et al.
Human Mutation
|
June 20, 1998
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals
S Ries, C Büchler, G Schindler, et al.
Journal of Inherited Metabolic Disease
|
December 13, 2006
The natural history of Niemann-Pick disease type C in the UK
J Imrie, S Dasgupta, G T N Besley, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 1, 1993
Linkage of Niemann-Pick disease type C to human chromosome 18
E D Carstea, M H Polymeropoulos, C C Parker, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
November 1, 1988
Type-C Niemann-Pick disease: low density lipoprotein uptake is associated with premature cholesterol accumulation in the Golgi complex and excessive cholesterol storage in lysosomes
E J Blanchette-Mackie, N K Dwyer, L M Amende, et al.
Neurology
|
December 13, 2006
Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia
M Timmons, M Tsokos, M Abu Asab, et al.
The New England Journal of Medicine
|
April 17, 1998
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy
W Krivit, E G Shapiro, C Peters, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
April 6, 2005
[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]
C Morisot, G Millat, A Coeslier, et al.
La Revue De Medecine Interne
|
November 26, 2016
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]
O Lidove, N Belmatoug, R Froissart, et al.
Page
of 16