Immunobiology of Reproduction (Serono Symposia USA)

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The annual number of cases reported in the United States has increased in recent years. Modern medicine has done much to erradicate and cure disease, but it has failed in some areas. Lippincott Co., Philadelphia, p. 62 (1990). Symptoms can include: bone pain or tenderness, carpal tunnel syndrome, muscle weakness, tenderness and swelling of the arms, legs and sometimes the joints, and thickened skin that looks puckered. Several clinical forms of GSD have been described including (i) a neuromuscular form that appears in the perinatal age or in childhood; most of these cases have an early fatal evolution and are typically due to two null mutations; (ii) a hepatic form that may have a progressive or a nonprogressive evolution; patients are usually compound heterozygous for a severe (null) and a mild (missense) mutation; and (iii) the polyglucosan body disease that appears in adulthood with upper and lower motor neuron involvement and executive dysfunction [ 59 ].

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Clinical Reproductive Medicine and Surgery: A Practical

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Santavuori Disease: an extremely rare inherited disorder, belongs to a group of progressive degenerative neurometabolic diseases known as the neuronal ceroid lipofuscinoses (NCL). Fanconi's Anemia may also be associated with heart (cardiac), kidney (renal), and/or skeletal abnormalities as well as patchy, brown discolorations (pigmentation changes) of the skin. Sponsor: Durham Pharmaceuticals LLC Contact: Ms. Reviewers will comment on whether the following Resource Sharing Plans, or the rationale for not sharing the following types of resources, are reasonable: 1) Data Sharing Plan; 2) Sharing Model Organisms; and 3) Genome Wide Association Studies (GWAS).

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