Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.
Great Ormond Street Hospital for Children, London, UK.
Carlotta
C
Spagnoli
Carlos
C
De Sousa
D010244:Bulbar Palsy, Progressive / Q000235:genetics / Q000628:therapy*; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000628:therapy*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics
D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human