未登录

B

Befekadu Asfaw

Charles University Prague

H指数:15

被引数:935

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

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

CLINICA CHIMICA ACTA

IF2.9

2024-07-012

OAAI

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-04-059

OAAI

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

IF3.3

2018-03-146

OAAI

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

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2014-12-2719

PREAI

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

CLINICA CHIMICA ACTA

IF2.9

2013-10-0117

OAAI

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

VIRCHOWS ARCHIV

IF3.1

2008-03-2035

OAAI

Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2007-04-0118

PREAI

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

VIRCHOWS ARCHIV

IF3.1

2005-05-2613

PRE

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

JOURNAL OF LIPID RESEARCH

IF4.1

2002-07-0130

OAAI

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

IF10.1

1988-06-0148

PRE

THE 1ST IDENTIFICATION OF THE BENZENEDIAZONIUM ION FORMATION FROM A NON-AMINOAZO DYE, 1-PHENYLAZO-2-HYDROXYNAPHTHALENE (SUDAN-I) BY MICROSOMES OF RAT LIVERS

IF10.1

1988-06-0159

PRE