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American Heart Journal
|
May 29, 2000
New insights in cardiac structural changes in patients with Fabry's disease
A Linhart, T Palecek, J Bultas, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Di- and trihydroxycholestanaemia in twin sisters
R J Wanders, C W van Roermund, A Schelen, et al.
The British Journal of Dermatology
|
November 22, 2011
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16
K M Spaunhurst, A M Hogendorf, F J D Smith, et al.
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.
Prague Medical Report
|
April 8, 2011
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene
M Magner, K Vinšová, M Tesařová, 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.
Diabetic Medicine : a Journal of the British Diabetic Association
|
February 8, 2017
Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes
J O Day, S E Flanagan, M H Shepherd, et al.
Casopis Lekaru Ceskych
|
January 15, 2002
[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]
V Smolka, V Bekárek, E Hlídková, et al.
Folia Biologica
|
May 18, 2016
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
M Řeboun, J Rybová, R Dobrovolný, 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.
Page
of 32
Search research articles
Search
Showing results (291-300 of 311) with videos related to
Sort By:
Page
of 32
American Heart Journal
|
May 29, 2000
New insights in cardiac structural changes in patients with Fabry's disease
A Linhart, T Palecek, J Bultas, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Di- and trihydroxycholestanaemia in twin sisters
R J Wanders, C W van Roermund, A Schelen, et al.
The British Journal of Dermatology
|
November 22, 2011
Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16
K M Spaunhurst, A M Hogendorf, F J D Smith, et al.
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.
Prague Medical Report
|
April 8, 2011
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene
M Magner, K Vinšová, M Tesařová, 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.
Diabetic Medicine : a Journal of the British Diabetic Association
|
February 8, 2017
Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes
J O Day, S E Flanagan, M H Shepherd, et al.
Casopis Lekaru Ceskych
|
January 15, 2002
[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]
V Smolka, V Bekárek, E Hlídková, et al.
Folia Biologica
|
May 18, 2016
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female
M Řeboun, J Rybová, R Dobrovolný, 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.
Page
of 32