Associated Papers
Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J et al.
Jimd Reports, 2015
Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
Griese M et al.
Clinical Genetics, 2010
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