Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement.
Kim
Cinoo
C
Department of Ophthalmology, Incheon Medical Center, Incheon, Korea.
Jeong
Jinho
J
Yu
Hyeong Gon
HG
D000328:Adult; D003941:Diagnostic Techniques, Ophthalmological; D004596:Electroretinography; D005451:Fluorescein Angiography; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics; D008297:Male; D052537:Niemann-Pick Disease, Type B / Q000150:complications* / Q000201:enzymology / Q000473:pathology; D011237:Predictive Value of Tests; D012160:Retina / Q000201:enzymology / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity
D013108:Sphingomyelin Phosphodiesterase