8 results on '"Shoji Yano"'
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2. LONG-TERM PROGNOSIS IN TWO ADULT PATIENTS WITH MALONYL COENZYME A DECARBOXYLASE DEFICIENCY
3. N-OF-1 SINGLE PATIENT OPEN TRIAL (SPOT) DETERMINES DIET INTERVENTION EFFECTIVENESS FOR SYMPTOM MANAGEMENT IN ADULT WITH CLASSICAL PKU
4. A comparison of clinical features in two patients with mucopolysaccharidosis type VI treated with ERT versus HSCT
5. Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure
6. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment
7. Detection of early end-organ damage by endothelial dysfunction with reactive hyperemia-digital peripheral arterial tonometry in patients with Fabry disease
8. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry
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