Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling

Keyphrases

• Counseling 100%
• Pedigree 100%
• Metachromatic Leukodystrophy 100%
• Pseudodeficiency Allele 100%
• Nervous System 33%
• Clinical Data 33%
• Artificial Substrate 33%
• Biochemical Data 33%
• Point mutation 33%
• Myelin 33%
• Pathology Report 33%
• Catabolism 33%
• Clinical Genetics 33%
• Imaging Data 33%
• Enzyme Activity 33%
• Genetic Data 33%
• Preclinical Imaging 33%
• Gene Coding 33%
• Electrophysiological Imaging 33%
• Electrophysiological Data 33%
• Arylsulfatase A 33%
• Subclinical Involvement 33%

Medicine and Dentistry

• Allele 100%
• Counseling 100%
• Metachromatic Leukodystrophy 100%
• Pedigree 100%
• Diagnosis 25%
• In Vitro 25%
• Point Mutation 25%
• Enzyme Activity 25%
• Myelin 25%
• Cerebroside Sulfatase 25%
• Nervous System 25%

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Pedigree 100%
• Metachromatic Leukodystrophy 100%
• Enzyme 25%
• Genetics 25%
• Point Mutation 25%
• Enzyme Activity 25%
• Arylsulfatase A 25%
• Genomics 25%
• Myelin 25%