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Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12188
Abstract: Soft‐tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30‐year‐old patient with Gaucher disease type 3, receiving β‐glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated…
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Keywords:
reduction;
soft tissue;
reduction therapy;
substrate reduction ... See more keywords
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Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1371
Abstract: In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature…
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Keywords:
patients gm1;
gangliosidosis;
reduction therapy;
substrate reduction ... See more keywords
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Published in 2022 at "Seminars in speech and language"
DOI: 10.1055/s-0042-1742695
Abstract: Avoidance Reduction Therapy for Stuttering (ARTS) is a behavioral therapy for children and adults that incorporates speech therapy and counseling to reduce learned physical and socioemotional struggle that constitute the problem for the stutterer.a While…
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Keywords:
avoidance;
therapy;
therapy school;
avoidance reduction ... See more keywords
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Published in 2019 at "International heart journal"
DOI: 10.1536/ihj.18-064
Abstract: High thrombus burden induced slow-flow and no-reflow during primary percutaneous coronary intervention (PCI) and is associated with a poor prognosis. We aimed to investigate whether a combined thrombus burden reduction therapy during primary PCI, could…
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Keywords:
cardiac function;
burden reduction;
reduction therapy;
burden ... See more keywords