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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Download from doi.orgViews of Recently First-Certified US Child Neurologists on Their Residency Training
Download from www.researchgate.netRecommendations for the diagnosis and management of Niemann–Pick disease type C: An update
Download from www.researchgate.netNeurotransmitter abnormalities and response to supplementation in SPG11
Download from europepmc.orgTeaching NeuroImages: Call it as you see it: Evolution of bilateral striatal necrosis
Download from www.neurology.orgNeurology of inherited glycosylation disorders
Download from europepmc.orgDevelopment of a suspicion index to aid diagnosis of Niemann-Pick disease type C
Download from www.researchgate.netMassive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms
Download from www.ncbi.nlm.nih.govCo-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria
Download from research.vu.nlResponse to Immunotherapy in a 20-Month-Old Boy With Anti-Nmda Receptor Encephalitis
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