Publication

Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988
PubMed ID: 3343337

Records Return:  (6) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03245Male9 YR632probandMULTIPLE SULFATASE DEFICIENCY
GM03896Male49 YR574probandREFSUM DISEASE
GM04340Female2 MO probandZELLWEGER SYNDROME; ZS
GM06231Female1 MO probandZELLWEGER SYNDROME; ZS
GM10640Female  probandSJOGREN-LARSSON SYNDROME
GM03034Male10 YR probandICHTHYOSIS, X-LINKED