E-LIB Suche - Ergebnisse für: Elleder, M.

1

Glycosphingolipid profile of the apical pole of human place..:

Hulkova, H. ; Ledvinova, J. ; Kuchar, L....
Glycobiology. 22 (2012) 5 - p. 725-732 , 2012

Link: https://doi.org/10.1093/..

2

Danon disease: A focus on processing of the novel LAMP2 mut..:

Majer, F. ; Vlaskova, H. ; Krol, L....
Gene. 498 (2012) 2 - p. 183-195 , 2012

Link: https://doi.org/10.1016/..

3

Impact of mutation in TMEM70 gene on respiratory chain comp..:

Kratochvilova, H. ; Tesarova, M. ; Honzik, T....
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1817 (2012) - p. S17 , 2012

Link: https://doi.org/10.1016/..

4

Expression and lysosomal targeting of CLN7, a major facilit..:

Sharifi, A. ; Kousi, M. ; Sagné, C....
Human Molecular Genetics. 19 (2010) 22 - p. 4497-4514 , 2010

Link: https://doi.org/10.1093/..

5

Oligodendroglia from ADSL-deficient patient produce SAICAri..:

Žídková, L. ; Krijt, J. ; Sládková, J....
Molecular Genetics and Metabolism. 101 (2010) 2-3 - p. 286-288 , 2010

Link: https://doi.org/10.1016/..

6

Autopsy case of Gaucher disease type I in a patient on enzy..:

Hůlková, H. ; Ledvinová, J. ; Poupětová, H....
Journal of Inherited Metabolic Disease. 32 (2009) 4 - p. 551-559 , 2009

Link: https://doi.org/10.1007/..

7

Abnormal expression and processing of uromodulin in Fabry d..:

Vylet'al, P. ; Hůlková, H. ; Živná, M....
Journal of Inherited Metabolic Disease. 31 (2008) 4 - p. 508-517 , 2008

Link: https://doi.org/10.1007/..

8

Intravascular ultrasound assessment of coronary artery invo..:

Kovarnik, T. ; Mintz, G. S. ; Karetova, D....
Journal of Inherited Metabolic Disease. 31 (2008) 6 - p. 753-760 , 2008

Link: https://doi.org/10.1007/..

9

Glucosylceramide transfer from lysosomes—the missing link i..:

Elleder, M.
Journal of Inherited Metabolic Disease. 29 (2006) 6 - p. 707-715 , 2006

Link: https://doi.org/10.1007/..

10

FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS:

Karetova, D. ; Bultas, J. ; Linhart, A....
Acta Paediatrica. 95 (2006) S451 - p. 124-128 , 2006

Link: https://doi.org/10.1111/..

11

FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS:

Karetova, D. ; Bultas, J. ; Linhart, A....
Acta Paediatrica. 95 (2006) 0 - p. 124-128 , 2006

Link: https://doi.org/10.1080/..

12

Subclinical course of adult visceral Niemann–Pick type C1 d..:

Dvorakova, L. ; Sikora, J. ; Hrebicek, M....
Journal of Inherited Metabolic Disease. 29 (2006) 4 - p. 591-591 , 2006

Link: https://doi.org/10.1007/..

13

Lactosylceramide in lysosomal storage disorders. A comparat..:

Hůlková, H. ; Ledvinová, J. ; Asfaw, B....
Virchows Archiv. 447 (2005) 1 - p. 31-44 , 2005

Link: https://doi.org/10.1007/..

14

Acid sphingomyelinase deficiency. Phenotype variability wit..:

Pavlů‐Pereira, H. ; Asfaw, B. ; Poupčtová, H....
Journal of Inherited Metabolic Disease. 28 (2005) 2 - p. 203-227 , 2005

Link: https://doi.org/10.1007/..

15

Clinical, biochemical and molecular analyses of six patient..:

Vesela, K ; Hansikova, H ; Tesarova, M...
Acta Paediatrica. 93 (2004) 10 - p. 1312-1317 , 2004

Link: https://doi.org/10.1111/..