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Journal of Inherited Metabolic Disease
|
June 28, 2006
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
L Dvorakova, J Sikora, M Hrebicek, et al.
Casopis Lekaru Ceskych
|
February 26, 1998
[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family]
M Elleder, H Poupĕtová, J Zeman, et al.
Neuropediatrics
|
June 1, 1993
New subform of the late infantile form of neuronal ceroid lipofuscinosis
K E Wisniewski, E Kida, F Connell, et al.
Journal of Hepatology
|
March 29, 2000
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
M Elleder, A Chlumská, J Hyánek, et al.
Casopis Lekaru Ceskych
|
June 7, 2012
[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic]
H Poupetová, J Ledvinová, D Chudoba, et al.
Vnitrni Lekarstvi
|
February 1, 1994
[Amyloid light-chain amyloidosis with primary involvement of the cardiorespiratory system--2 case reports]
V Danzig, Z Danzigová, K Lukás, et al.
Ceskoslovenska Patologie
|
September 8, 2007
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance
J Sikora, L Dvoráková, H Vlásková, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1986
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin
M Elleder, J Nevoral, V Spicáková, et al.
Prenatal Diagnosis
|
September 1, 1987
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi
F Roels, V Verdonck, M Pauwels, et al.
American Journal of Medical Genetics
|
June 5, 1995
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells
M Elleder, Z Drahota, V Lisá, et al.
Page
of 20
Search research articles
Search
Showing results (151-160 of 191) with videos related to
Sort By:
Page
of 20
Journal of Inherited Metabolic Disease
|
June 28, 2006
Subclinical course of adult visceral Niemann-Pick type C1 disease. A rare or underdiagnosed disorder?
L Dvorakova, J Sikora, M Hrebicek, et al.
Casopis Lekaru Ceskych
|
February 26, 1998
[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family]
M Elleder, H Poupĕtová, J Zeman, et al.
Neuropediatrics
|
June 1, 1993
New subform of the late infantile form of neuronal ceroid lipofuscinosis
K E Wisniewski, E Kida, F Connell, et al.
Journal of Hepatology
|
March 29, 2000
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer
M Elleder, A Chlumská, J Hyánek, et al.
Casopis Lekaru Ceskych
|
June 7, 2012
[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic]
H Poupetová, J Ledvinová, D Chudoba, et al.
Vnitrni Lekarstvi
|
February 1, 1994
[Amyloid light-chain amyloidosis with primary involvement of the cardiorespiratory system--2 case reports]
V Danzig, Z Danzigová, K Lukás, et al.
Ceskoslovenska Patologie
|
September 8, 2007
A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance
J Sikora, L Dvoráková, H Vlásková, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1986
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin
M Elleder, J Nevoral, V Spicáková, et al.
Prenatal Diagnosis
|
September 1, 1987
Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi
F Roels, V Verdonck, M Pauwels, et al.
American Journal of Medical Genetics
|
June 5, 1995
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells
M Elleder, Z Drahota, V Lisá, et al.
Page
of 20