Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency

Keyphrases

• Hematologic 100%
• Riboflavin 100%
• Treatment Monitoring 100%
• Riboflavin Transporter Deficiency 100%
• Untargeted Metabolomics Analysis 100%
• Neutropenia 66%
• Macrocytic Anemia 66%
• Ataxia 33%
• Anemia 33%
• Young children 33%
• Peripheral Neuropathy 33%
• Respiratory Insufficiency 33%
• Bone Marrow Examination 33%
• Sudden Sensorineural Hearing Loss (SSNHL) 33%
• Clinical Phenotype 33%
• Compound Heterozygous mutation 33%
• Pathomechanism 33%
• Flavin Adenine Dinucleotide 33%
• Neurological Features 33%
• Biochemical Abnormalities 33%
• Variants of Uncertain Significance 33%
• Dysarthria 33%
• Bulbar Palsy 33%
• Neurogenetic Disorders 33%
• Megaloblastic Change 33%
• SLC52A2 33%
• Trio Exome Sequencing 33%
• Two-year-olds 33%
• Multiple Blood Transfusion 33%

Medicine and Dentistry

• Metabolomics 100%
• Patient Monitoring 100%
• Riboflavin 100%
• Disease 50%
• Supplementation 33%
• Neutropenia 33%
• Macrocytic Anemia 33%
• Anemia 16%
• Toddlers 16%
• Blood Transfusion 16%
• Exome Sequencing 16%
• Peripheral Neuropathy 16%
• Respiratory Failure 16%
• Sensorineural Hearing Loss 16%
• Ataxia 16%
• Dysarthria 16%
• Bulbar Palsy 16%
• Flavine Adenine Nucleotide 16%

Pharmacology, Toxicology and Pharmaceutical Science

• Riboflavin 100%
• Disease 50%
• Neutropenia 33%
• Macrocytic Anemia 33%
• Perception Deafness 16%
• Flavine Adenine Nucleotide 16%
• Bulbar Paralysis 16%
• Anemia 16%
• Respiratory Failure 16%
• Ataxia 16%
• Peripheral Neuropathy 16%
• Dysarthria 16%