Article

Pediatric Gaucher Disease with Secondary Malnutrition (Kwashiorkor)

2024-11-19

Abstract excerpt

<title>Abstract</title> <p>Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA gene (Smith et al., 2017). It results in glucocerebrosidase deficiency, leading to the accumulation of glucocerebrosides in macrophages, causing systemic manifestations such as splenomegaly, anemia, and growth retardation (Hayes et al., 1998). This case report describes a 1-year and 5-month-old fema...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: af544d58-ab12-597f-aa79-c78e4002d4d0
DOI: 10.21203/rs.3.rs-5477084/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Pediatric Gaucher Disease with Secondary Malnutrition (Kwashiorkor)DOI 10.21203/rs.3.rs-5477084/v1Read

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.Semantic proximity Read

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Semantic proximity Read

Changing clinical manifestations of Gaucher disease in TaiwanSemantic proximity Read

[Clinical phenotype and genotype of Gaucher disease in 14 children].Semantic proximity Read

Patient and caregiver burden of neuronopathic Gaucher disease: The GARDIAN Registry experienceSemantic proximity Read

Neuronopathic Gaucher disease: Rare in the West, common in the East.Semantic proximity Read

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.Semantic proximity Read

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.Semantic proximity Read

Clinical and Genetic Landscape of Neuronopathic Gaucher Disease in Ukraine: Hepatosplenomegaly and Diagnostic DelaySemantic proximity Read

Gaucher Disease Coexisting with Cytomegalovirus Infection: A Rare Presentation in an Infant.Semantic proximity Read

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).Semantic proximity Read

Gaucher Disease in 20-Month-Old Ethiopian Boy with a Massive Splenomegaly and Failure to Grow: Challenges in Case ManagementSemantic proximity Read