Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.01.008
Abstract: Mucopolysaccharidosis type IH (MPS IH, Hurler syndrome) is a progressive, multisystem autosomal recessive lysosomal storage disorder resulting in the consequent accumulation of glycosaminoglycans. It is well recognized that early hematopoietic stem cell transplantation (HSCT) prevents… read more here.
Keywords: mucopolysaccharidosis type; two japanese; cell transplantation; stem cell ... See more keywords
A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.
Sign Up to like & getrecommendations! Published in 2023 at "Endocrine journal"
DOI: 10.1507/endocrj.ej22-0541
Abstract: Glucokinase is a glycolytic enzyme that catalyzes the phosphorylation of glucose to glucose-6-phospate in the first step of the glycolytic pathway. It also regulates the threshold for insulin secretion from pancreatic beta cells by catalyzing… read more here.
Keywords: diabetes young; maturity onset; onset diabetes; glucokinase gene ... See more keywords
Comparing the Psychometric Properties of Two Japanese-Translated Scales of the Free Will and Determinism-Plus Scale
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Psychology"
DOI: 10.3389/fpsyg.2021.720601
Abstract: The free will and determinism-plus scale (FAD-Plus) is one of the most widely used scales to assess the lay belief of people in the existence of free will and deterministic world views. Past research has… read more here.
Keywords: two japanese; psychometric properties; free determinism; determinism plus ... See more keywords