Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

Subjects: “…gaucher disease…”
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Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease by Mirta Koželj, Samo Zver, Vesna Zadnik

“…There is predominate opinion among physicians managing type 1 Gauchers' disease (GD) that cardiac involvement is not an issue in these patients. …”
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Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association by Nupur Parakh, Kusha Sharma, Sunita Sharma, Priti Chatterjee, Varinder Singh

Subjects: “…gaucher disease…”
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Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population by Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa

“…Abstract Acid sphingomyelinase deficiency (ASMD) and Gaucher disease (GD) are lysosomal storage disorders associated with hepatosplenomegaly and thrombocytopenia. …”
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Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey by Ari Zimran, Shoshana Revel-Vilk, Tama Dinur, Majdolen Istaiti, Jaco Botha, Elena Lukina, Pilar Giraldo, Patrick Deegan, Stephan vom Dahl

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Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia by Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

“…The case report highlights a severe form of Gaucher disease with histopathological and molecular confirmation that presents with hydrops fetalis and severe refractory anemia. …”
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Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat by Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi

“…In Gaucher Disease (GD) the enzyme (imiglucerase) replacement therapy (ERT) is not able to stop the progression of the neurological involvement, while the substrate reduction therapy (SRT), performed by N-Butyldeoxynojirimycin (miglustat), is an alternative that should be evaluated. …”
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