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Multiple sulfatase deficiency (MSD), also known as Austin disease, [1] or mucosulfatidosis, [1] is a very rare autosomal recessive [2] lysosomal storage disease [3] caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. [4]: 502 [5] It is similar to mucopolysaccharidosis. [6]
Fluoride or fluorine deficiency is a disorder which may cause increased dental caries [1] and possibly osteoporosis, [2] [3] due to a lack of fluoride in diet. [ 4 ] [ 5 ] Common dietary sources of fluoride include tea, grape juice, wine, raisins, some seafood, coffee, and tap water that has been fluoridated . [ 6 ]
The Merck Manuals (outside the U.S. and Canada: The MSD Manuals; Chinese: 默沙东诊疗手册; pinyin: Mòshādōng Zhěnliáo Shǒucè) are medical references published by the American pharmaceutical company Merck & Co. (known as MSD outside the United States and Canada), that cover a wide range of medical topics, including disorders, tests, diagnoses, and drugs.
Fluorine compounds are highly amenable to nuclear magnetic resonance (NMR), because fluorine-19 has a nuclear spin of 1 ⁄ 2, a high nuclear magnetic moment, and a high magnetogyric ratio. Fluorine compounds typically have a fast NMR relaxation , which enables the use of fast averaging to obtain a signal-to-noise ratio similar to hydrogen-1 ...
Mineral deficiency is a lack of the dietary minerals, the micronutrients that are needed for an organism's proper health. [1] The cause may be a poor diet , impaired uptake of the minerals that are consumed, or a dysfunction in the organism's use of the mineral after it is absorbed.
[2] 2,4-Dienoyl-CoA reductase deficiency was included as a secondary condition in the American College of Medical Genetics Recommended Uniform Panel for newborn screening. Its status as a secondary condition means there was not enough evidence of benefit to include it as a primary target, but it may be detected during the screening process or ...
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Most patients with skeletal fluorosis show side effects from the high fluoride dose such as ruptures of the stomach lining and nausea. [4] Fluoride can also damage the parathyroid glands, leading to hyperparathyroidism, the uncontrolled secretion of parathyroid hormones. These hormones regulate calcium concentration in the body.