نتایج جستجو برای: mucolipidosis
تعداد نتایج: 464 فیلتر نتایج به سال:
The evidence procedure for setting hyperparameters is essentially the same as the techniques of ML II and generalized maximumlikelihood Unlike those older techniques however the evidence procedure has been justi ed and used as an approximation to the hierarchical Bayesian calculation We use several examples to explore the validity of this justi cation Then we derive upper and often large lower ...
Rapid Publication Missense Mutations in N-Acetylglucosamine-1Phosphotransferase a/b Subunit Gene in a Patient With Mucolipidosis III and a Mild Clinical Phenotype Stephan Tiede, Nicole Muschol, Gert Reutter, Michael Cantz, Kurt Ullrich, and Thomas Braulke* Department of Biochemistry, Children’s Hospital, University Hospital Hamburg Eppendorf, Hamburg, Germany Department of Rheumatology, Childre...
symmetric changes, and lack of symptoms, we suspected a metabolic storage disorder. Laboratory test results showed normal levels of -galactosidase, arylsulfatase A, hexosaminidase A and B, and -galactocerebrosidase.However, sialic acid levelswere elevated in the urine. Examination results of a skin biopsy specimen revealed a fibroblast -neuraminidase level of 0.5 nmoles/h per milligram of prote...
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological abnormalities. In an attempt to obtain insight into the nature of the metabolic abnormality in this disorder, we prospectively evaluated 15 consecutive patients, aged 2 to 23 years, over a period of 22 months. The finding of iron deficiency in some o...
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