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Your search keyword '"Shintaku, Haruo"' showing total 13 results

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1. Plasma biopterin levels and tetrahydrobiopterin responsiveness

2. Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.

3. Two-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria.

4. Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening.

5. Activity of daily living for Morquio A syndrome.

6. Hematopoietic stem cell transplantation for Morquio A syndrome.

7. Neutrophil-activating activity and platelet-activating factor synthesis in cytokine-stimulated endothelial cells: Reduced activity in growth-arrested cells

8. Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members

10. Neuronal ceroid lipofuscinosis (NCL) types 1 and 2: Enzyme characteristics of PPT1 and TPP1, and their high risk and newborn screenings.

11. Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.

12. Hematopoietic stem cell transplantation and ERT for Hunter syndrome.

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