B. Asfaw

发表

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts from α-mannosidosis patients

K. Vesela, M. Tesařová, J. Zeman, 2009, Biologia.

Activation of carcinogens by peroxidase Horseradish peroxidase‐mediated formation of benzenediazonium ion from a non‐aminoazo dye, 1‐phenylazo‐2‐hydroxynaphthalene (Sudan I) and its binding to DNA

P. Anzenbacher, M. Stiborová, B. Asfaw, 1988, FEBS letters.

Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study

M. Elleder, H. Hulkova, K. Kopřiva, 2005, Virchows Archiv.

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.

E. Conzelmann, B. Černý, B. Asfaw, 1999, Analytical biochemistry.

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations

M. Jirsa, M. Vanier, M. Hřebíček, 2019, Orphanet Journal of Rare Diseases.

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

F. Tureček, H. Poupětová, B. Asfaw, 2013, Clinica chimica acta; international journal of clinical chemistry.

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

K. Hodaňová, H. Hartmannová, S. Kmoch, 2022, bioRxiv.

Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease

M. Hřebíček, F. Majer, B. Asfaw, 2022, Journal of inherited metabolic disease.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

A. Lugowska, J. Sikora, H. Jahnová, 2017, Analytical biochemistry.

Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.

D. Schindler, E. Conzelmann, B. Černý, 1998, Journal of lipid research.

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200

R. Desnick, D. Schindler, A. Chabás, 2002, Journal of Lipid Research.

Oxidation of Azo Dyes by Peroxidase: Additional Evidence of a One- Electron Mechanism of Oxidation of Dimethylaminoazobenzene and Sudan I (Solvent Yellow 14)

E. Frei, M. Stiborová, H. Schmeiser, 1996 .

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.

Tandem Mass Spectrometry of Sphingolipids: Application in Metabolic Studies and Diagnosis of Inherited Disorders of Sphingolipid Metabolism

B. Asfaw, J. Ledvinová, L. Kuchař, 2012 .

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

Martin Strohalm, V. Havlíček, R. Desnick, 2015, Analytical and Bioanalytical Chemistry.

Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations

I. Krägeloh-Mann, M. Staudt, M. Elleder, 2009, American journal of medical genetics. Part A.

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

M. Elleder, H. Hulkova, J. Sikora, 2008, Virchows Archiv.

Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.

J. Brynda, S. Kmoch, P. Řezáčová, 2000, Human molecular genetics.

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

J. Rybova, B. Asfaw, J. Ledvinová, 2016, Advances in clinical chemistry.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

J. Zeman, K. Sandhoff, M. Elleder, 2005, Journal of Inherited Metabolic Disease.

Specific storage of glycoconjugates with terminal &agr;-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B

V. Havlíček, Ľ. Škultéty, H. Hulkova, 2018, Glycobiology.

Peroxidase-activated carcinogenic azo dye Sudan I (Solvent Yellow 14) binds to guanosine in transfer ribonucleic acid.

E. Frei, M. Stiborová, B. Asfaw, 1995, General physiology and biophysics.

A new way to carcinogenicity of azo dyes: the benzenediazonium ion formed from a non-aminoazo dye, 1-phenylazo-2-hydroxynaphthalene(Sudan I) by microsomal enzymes binds to deoxyguanosine residues of DNA.

P. Anzenbacher, M. Stiborová, P. Hodek, 1988, Cancer letters.

Benzenediazonium ion derived from Sudan I forms an 8-(phenylazo)guanine adduct in DNA.

E. Frei, M. Stiborová, M. Wiessler, 1995, Chemical research in toxicology.

The first identification of the benzenediazonium ion formation from a non-aminoazo dye, 1-phenylazo-2-hydroxynaphthalene (Sudan I) by microsomes of rat livers.

P. Anzenbacher, M. Stiborová, P. Hodek, 1988, Cancer letters.

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

Z. Bílková, L. Korecká, D. Horák, 2010, Rapid communications in mass spectrometry : RCM.

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

G. Dostálová, H. Poupětová, B. Asfaw, 2024, Clinica chimica acta; international journal of clinical chemistry.