Results 121 to 130 of about 957 (152)

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases. [PDF]

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report. [PDF]

BMC Nephrol
Li XY, Chen QN, Fang JN, Zeng ZC, Pan Y.
europepmc   +1 more source

A Rare Case of Fabry's Disease-Induced Cardiomyopathy: A Case Report and Review of the Literature. [PDF]

Cureus
Hussein A, Salih A, Mohamed Y, Thames E, Buja LM.   +4 more
europepmc   +1 more source

Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease. [PDF]

Orphanet J Rare Dis
Lenders M, Nowak A, Cybulla M, Kaufeld J, Köhn AF, Muschol NM, Kurschat C, Brand E.   +7 more
europepmc   +1 more source

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots

International Journal of Molecular Sciences, 2023
Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb3) and related analogues. Lyso-Gb3 and related analogues are useful biomarkers for screening and should be routinely monitored ...
Michel Boutin, Christiane Auray-Blais, Bruno Maranda   +2 more
exaly   +3 more sources

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease

Molecular Genetics and Metabolism, 2010
Fabry disease is an X-linked genetic disorder caused by a deficiency of alpha-galactosidase A (GLA) activity. As enzyme replacement therapy (ERT) involving recombinant GLAs has been introduced for this disease, a useful biomarker for diagnosis and monitoring of therapy has been strongly required.
Toshihiro Suzuki, Toya Ohashi, Teruo Kitagawa   +2 more
exaly   +3 more sources

Elevated globotriaosylsphingosine is a hallmark of Fabry disease [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 2008
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to globotriaosylceramide accumulation in the endothelium.
Johannes Aerts, Rolf Boot, Roelof Ottenhoff   +2 more
exaly   +4 more sources

A Concise Synthesis of Globotriaosylsphingosine

European Journal of Organic Chemistry, 2011
AbstractGlobotriaosylsphingosine (lysoCTH) is produced in the cell by deacylation of the globo‐sphingolipid globotriaosylceramide. The latter compound is the major storage material encountered in Fabry patients, an inherited lysosomal storage disorder characterized by partially impaired α‐galactosidase A (GLA) activity.
Johannes Aerts, Herman Overkleeft, Rolf Boot   +2 more
exaly   +3 more sources

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine [PDF]

Clinical Journal of the American Society of Nephrology: CJASN, 2013
SummaryBackground and objectivesPrevious reports of Fabry disease screening in dialysis patients indicate thatα-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required.
Jun Tohyama, Ichiei Narita, Satoshi Ishii   +2 more
exaly   +3 more sources