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Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology|October 12, 2020
Combined valve replacement and aortocoronary bypass in an adult mucopolysaccharidosis type VII patientJosef Marek, Petr Kuchynka, Vladimir Mikulenka, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|November 24, 2017
Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiencyFabian P S Yu, Diana Islam, Jakub Sikora, et al.
The American Journal of Pathology|November 26, 2018
Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual ImpairmentFabian P S Yu, Benjamin S Sajdak, Jakub Sikora, et al.
Journal of Inherited Metabolic Disease|June 22, 2026
Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female PatientsLadislav Kuchar, Lenka Dvorakova, Linda Berna, et al.
Materials (Basel, Switzerland)|May 20, 2022
Environmental and Production Aspects of Using Fertilizers Based on Waste Elemental Sulfur and Organic MaterialsAneta Lisowska, Barbara Filipek-Mazur, Monika Komorowska, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?Filip Majer, Lenka Piherova, Martin Reboun, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C diseaseCristin D Davidson, Yonatan I Fishman, István Puskás, et al.
Molecular Genetics and Metabolism|July 20, 2010
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatmentKenneth N Maclean, Jakub Sikora, Viktor Kožich, et al.
ESC Heart Failure|July 14, 2020
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric studyJiri Gurka, Lenka Piherova, Filip Majer, et al.
Journal of Neuropathology and Experimental Neurology|August 23, 2020
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion DiseaseIvana Jedlickova, Anna Pristoupilova, Helena Hulkova, et al.
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