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Titlebook: Human Pathobiochemistry; From Clinical Studie Toshitaka Oohashi,Hirokazu Tsukahara,Fumio Otsuka Textbook 2019 Springer Nature Singapore Pte

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Familial Hypercholesterolemiacular events of heterozygous FH. However, homozygous FH is refractory to conventional lipid-lowering medicines. Innovative therapies, such as regenerative medicine or gene therapy, are needed for homozygous FH.
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Gaucher Diseaseoflexion of the neck and strabismus. Feeding problems and difficulty in handling secretion appeared at 6 months old. He manifested tonic-clonic convulsion without fever. Since convulsion continued for more than 30 min, he was transferred to the emergency room.
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Wilson DiseaseU/L (standard value, 9–27), was pointed out. Despite the investigations, however, its cause remained unclear. She was treated with traditional Chinese medicine, but it did not decrease the serum transaminase levels. At the age of 8 years, she was introduced to our hospital for further evaluations.
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Textbook 2019ents who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorder
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