Carcinogenesis 发表于 2025-3-25 18:46:46

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Engaging 发表于 2025-3-25 23:48:46

Clinical Role of Pteridine Therapy in Tetrahydrobiopterin Deficiencyerin (6-MPH.) lowers plasma Phenylalanine concentrations to the therapeutic range. The effective dose of BH. varies from 1 to 2 mg kg. daily in patients with defective biopterin synthesis, to 5 mg kg. or more in patients with dihydropteridine reductase (DHPR) deficiency. The cost of 2 mg kg. day. of

Nostalgia 发表于 2025-3-26 02:04:51

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faction 发表于 2025-3-26 06:15:13

Biotinidase Deficiency: A Novel Vitamin Recycling Defectrest in the inherited disorders of biotin-dependent carboxylases. The clinical and biochemical features of biotinidase deficiency are discussed. We also speculate about two exciting areas currently being investigated: the localization of action of biotinidase, and the possible role of the enzyme as

CUB 发表于 2025-3-26 11:18:19

Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirementiotin. We have observed that severe biotin depletion with clinical and biochemial consequences occurs within 12 days after birth in a newborn patient and within 15–20 days after withdrawal of biotin supplementation in four other patients. Our studies have shown that:

凹槽 发表于 2025-3-26 15:00:49

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怕失去钱 发表于 2025-3-26 18:55:31

Thiamine-responsive Inborn Errors of Metabolismthe syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long-term treatment varied from 20 to 2400mg day.. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in s

FLAT 发表于 2025-3-26 22:12:39

Recent Advances in the Mechanism of Pyridoxine-responsive Disordersnown to respond . to pharmacologic doses of pyridoxine are listed. The mechanism of pyridoxine responsiveness in homocystinuria due to cystathionine β-synthase deficiency is discussed. There is a correlation in most (but not all) cases between the presence of residual CS activity, which is often sti

corporate 发表于 2025-3-27 04:09:56

Vitamin E and Muscle Diseasesular dystrophy and other severe myopathies have been performed. These have suggested three types of agent which might be useful for this purpose, namely calcium antagonists, phospholipase inhibitors, and antioxidants or scavengers of reactive-free radicals. Vitamin E falls into the latter of these t

Crayon 发表于 2025-3-27 06:24:34

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查看完整版本: Titlebook: Inherited Disorders of Vitamins and Cofactors; Proceedings of the 2 G. M. Addison,K. Bartlett,R. J. Pollitt Conference proceedings 1985 SSI