Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening

Keyphrases

• Gaucher Disease 100%
• Pediatric 100%
• Carrier Screening 100%
• Early Manifestation 100%
• Genotype 50%
• Clinical Presentation 50%
• Gaucher 50%
• Disease Progression 50%
• Severity Score 50%
• Chart Review 50%
• Clinical Care 50%
• Counseling 50%
• Pediatric Population 50%
• Progressive Disease 50%
• Imaging Data 50%
• Newborn Screening 50%
• Mutation Carriers 50%
• Linear Growth 50%
• Mild Disease 50%
• Longitudinal Follow-up 50%
• Compound Heterozygous mutation 50%
• Splenomegaly 50%
• Preclinical Imaging 50%
• Molecular Genetic Testing 50%
• Clinical Laboratory Data 50%
• Disease Manifestations 50%
• Homozygote 50%
• Additional Monitoring 50%
• Longitudinal Imaging 50%
• Screening Program 50%
• Minimal Change Disease 50%
• Chitotriosidase Activity 50%
• Longitudinal Clinical Data 50%
• GBA mutations 50%

Medicine and Dentistry

• Disease 100%
• Pediatrics 100%
• Gaucher Disease Type 1 100%
• Counseling 33%
• Progressive Disease 33%
• Newborn Screening 33%
• Screening 33%
• Splenomegaly 33%
• Hepatomegaly 33%
• Genetic Screening 33%
• Homozygote 33%
• Chitotriosidase 33%

Biochemistry, Genetics and Molecular Biology

• Gaucher's Disease 100%
• Newborn Screening 50%
• Molecular Genetics 50%
• Genetic Screening 50%
• Homozygote 50%
• Screening 50%