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High Cystine In Platelets From Patients With Nephropathic Cystinosis: A Chemical, Ultrastructural, And Functional Evaluation
(B M J Publishing Group, 2005)
Aim: To investigate the morphology and function of platelets in nephropathic cystinosis (NC). Methods: Seven patients ( mean age, 6.5 years; SD, 20 months) with NC were investigated. Their platelets were examined by ...
Hereditary Juvenile Cobalamin Deficiency Caused By Mutations In The Intrinsic Factor Gene
(Natl Acad Sciences, 2005)
Hereditary juvenile megaloblastic anemia due to vitamin B-12 (co-balamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Grasbeck syndrome (IGS), cobalamin absorption is completely abolished ...
Nonradioactive Vitamin B-12 Absorption Test Evaluated In Controls And In Patients With Inherited Malabsorption Of Vitamin B-12
(Amer Assoc Clinical Chemistry, 2005)
Background: Current tests for evaluation of vitamin B-12 absorption are problematic because they involve the use of radioactively labeled vitamin B-12. We describe a vitamin B-12 absorption test that circumvents this ...