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Journal of Inherited Metabolic Disease
|
May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
H Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Virchows Archiv : an International Journal of Pathology
|
November 1, 1996
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency
M Hrebícek, J Zeman, J Musilová, et al.
Molecular Genetics and Metabolism
|
September 10, 1999
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
L Wang, X Ou, I Sebesta, et al.
Human Molecular Genetics
|
April 20, 2001
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
H Hulková, M Cervenková, J Ledvinová, et al.
Kidney International
|
August 3, 2006
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
P Vylet'al, M Kublová, M Kalbácová, et al.
Vnitrni Lekarstvi
|
April 11, 2012
[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis]
Z Adam, M Elleder, M Moulis, et al.
Human Molecular Genetics
|
September 10, 2010
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
A Sharifi, M Kousi, C Sagné, et al.
Casopis Lekaru Ceskych
|
January 6, 1978
[Current status, problems and perspective in prenatal genetic diagnosis]
M Macek, E Seemanová, J Salichová, et al.
Clinical Nephrology
|
November 19, 2010
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
A J Bleyer, M Zivná, H Hulková, et al.
Science (New York, N.Y.)
|
July 11, 1997
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
E D Carstea, J A Morris, K G Coleman, et al.
Page
of 20
Search research articles
Search
Showing results (181-190 of 191) with videos related to
Sort By:
Page
of 20
Journal of Inherited Metabolic Disease
|
May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
H Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Virchows Archiv : an International Journal of Pathology
|
November 1, 1996
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency
M Hrebícek, J Zeman, J Musilová, et al.
Molecular Genetics and Metabolism
|
September 10, 1999
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
L Wang, X Ou, I Sebesta, et al.
Human Molecular Genetics
|
April 20, 2001
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
H Hulková, M Cervenková, J Ledvinová, et al.
Kidney International
|
August 3, 2006
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
P Vylet'al, M Kublová, M Kalbácová, et al.
Vnitrni Lekarstvi
|
April 11, 2012
[The role of PET-CT in decision making on the treatment of localized nodular form of pulmonary AL-amyloidosis]
Z Adam, M Elleder, M Moulis, et al.
Human Molecular Genetics
|
September 10, 2010
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
A Sharifi, M Kousi, C Sagné, et al.
Casopis Lekaru Ceskych
|
January 6, 1978
[Current status, problems and perspective in prenatal genetic diagnosis]
M Macek, E Seemanová, J Salichová, et al.
Clinical Nephrology
|
November 19, 2010
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
A J Bleyer, M Zivná, H Hulková, et al.
Science (New York, N.Y.)
|
July 11, 1997
Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
E D Carstea, J A Morris, K G Coleman, et al.
Page
of 20