TY  - GEN
AU  - Srour,Myriam
AU  - Putorti,Maria Lisa
AU  - Schwartzentruber,Jeremy
AU  - Bolduc,Véronique
AU  - Shevell,Michael Israel
AU  - Poulin,Chantal
AU  - O'ferrall,Erin
AU  - Buhas,Daniela
AU  - Majewski,Jacek
AU  - Brais,Bernard
TI  - Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood
SN  - 1097-4598
PY  - 2014///1217
KW  - Adolescent
KW  - Bulbar Palsy, Progressive
KW  - diet therapy
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Family Health
KW  - Female
KW  - Genetic Linkage
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Male
KW  - Mutation, Missense
KW  - genetics
KW  - Neurologic Examination
KW  - Receptors, G-Protein-Coupled
KW  - Riboflavin
KW  - administration & dosage
KW  - Sural Nerve
KW  - pathology
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mus.24224
ER  -