Rare Diseases

Current bibliography for experts

"Thrombocytopenia" search results...

GAUCHER

Perinatal lethal Gaucher disease due to compound heterozygosity of the splicing mutations in GBA gene

2023-01-01

This report provides the precious experience of the clinical presentation of perinatal lethal Gaucher disease (PLGD) and advice on reproductive medicine for the next pregnancy in a couple.

POMPE

Newborn screening for Pompe disease in Italy: Long-term results and future challenges

2022-10-22

This study presents the results from 7 years of newborn screening (NBS) for Pompe disease (PD) and the management of infantile-onset (IOPD) and late-onset (LOPD) patients.

ENZIM REPLASMAN TEDAVISI

Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital

2022-10-03

High-suspicion targeted screening of Gaucher disease in patients with splenomegaly and thrombocytopenia based on a dry blood spot enzyme assay is high yielding, effective strategy in identifying Gaucher disease patients.

GAUCHER

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

2022-07-08

This study summarizes the genetic and phenotypic "portraits" of 14 patients with Gaucher Disease (GD) type 1 in the Republic of North Macedonia, 4 of Macedonian and 10 of Albanian origin.

GAUCHER

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

2022-06-15

Misdiagnosis and diagnostic delay in metabolic diseases could cause irreversible organ damage and delay the start of specific therapy for these patients.

GAUCHER

Development and Validation of Gaucher Disease Type 1 (GD1)-Specific Patient-Reported Outcome Measures (PROMs) for Clinical Monitoring and for Clinical Trials

2022-01-06

Development of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.

GAUCHER

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3

2021-11-01

This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of patients with Gaucher disease (GD) but also providing information on the outcomes of enzyme replacement therapy (ERT) in two different sub-types of GD.

GAUCHER

Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up

2021-07-23

Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an overall survival of 73.3%.

GAUCHER

Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial

2019-01-01

Eliglustat is first-line oral therapy for adults with Gaucher disease type 1 (GD1). GD1 patients using this therapy for eight years were studied and their patients observed clinically significant improvements in all measures, with the most significant improvements being noted in the most severely affected patients.

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