R. Dobrovolný
发表
A. Linhart,
M. Hřebíček,
J. Bultas,
2007,
Journal of Inherited Metabolic Disease.
R. Desnick,
I. Nazarenko,
F. Wibrand,
2011,
Molecular genetics and metabolism.
F. Nevens,
C. Antignac,
M. Kalbáčová,
2010,
Clinical journal of the American Society of Nephrology : CJASN.
D. Maixnerova,
V. Tesar,
J. Reiterová,
2006,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
M. Elleder,
M. Hřebíček,
L. Dvořáková,
2005,
Journal of Molecular Medicine.
M. Hřebíček,
F. Majer,
B. Asfaw,
2022,
Journal of inherited metabolic disease.
R. Desnick,
D. Schindler,
A. Chabás,
2002,
Journal of Lipid Research.
Y. Chien,
W. Hwu,
R. Desnick,
2009,
Human mutation.
M. Elleder,
M. Hřebíček,
L. Dvořáková,
2005,
American journal of medical genetics. Part A.
S. Tuft,
A. Davidson,
P. Lišková,
2019,
Investigative ophthalmology & visual science.
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
K. Jirsova,
M. Elleder,
P. Lišková,
2007,
American journal of ophthalmology.
E. McDade,
S. Kittner,
R. Desnick,
2010,
Stroke.
Martin Strohalm,
V. Havlíček,
R. Desnick,
2015,
Analytical and Bioanalytical Chemistry.
R. Desnick,
I. Nazarenko,
D. Doheny,
2011,
Human mutation.
M. Elleder,
H. Hulkova,
J. Sikora,
2008,
Virchows Archiv.
J. Zeman,
M. Hřebíček,
L. Dvořáková,
2016,
Folia biologica.
M. Hřebíček,
J. Sikora,
H. Poupětová,
2005,
BMC Cell Biology.
V. Havlíček,
Ľ. Škultéty,
H. Hulkova,
2018,
Glycobiology.
J. Sikora,
J. Rybova,
J. Ledvinová,
2018,
Journal of Inherited Metabolic Disease.
T. Kalina,
J. Stuchly,
V. Kanderova,
2020,
Blood.