Pages that link to "Q28297563"
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The following pages link to Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain (Q28297563):
Displaying 17 items.
- Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. (Q30358911) (← links)
- A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene (Q33396571) (← links)
- Guidelines for type 1 Gaucher's disease (Q33399078) (← links)
- Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. (Q33400301) (← links)
- Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease (Q33634529) (← links)
- Gaucher disease: new developments in treatment and etiology (Q34593914) (← links)
- Parkinsonism associated with glucocerebrosidase mutation (Q35091693) (← links)
- Novel pathogenic mutations in the glucocerebrosidase locus (Q36186922) (← links)
- Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease (Q36591007) (← links)
- Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). (Q37109338) (← links)
- The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches (Q37827416) (← links)
- Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S. (Q38862728) (← links)
- Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease (Q42172548) (← links)
- Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence? (Q45014908) (← links)
- Genetics of Gaucher's disease. Genotype-phenotype correlation (Q50518887) (← links)
- Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation (Q64245990) (← links)
- Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel (Q89769213) (← links)