哑剧
发表于 2025-3-27 00:24:04
Functional Characterization of Five , Missense Mutations Found in Argentinean Variegate Porphyria Prphyria in Argentina. This autosomal dominant disorder is clinically characterized by skin lesions and/or acute neurovisceral attacks. The precise diagnosis of patients with a symptomatic VP is essential to provide accurate treatment. It is also critical to identify asymptomatic relatives to avoid p
无底
发表于 2025-3-27 03:45:19
,Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis,ment of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder...: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation of undigested oligosaccharides. The symptoms of AMD consist of
ambivalence
发表于 2025-3-27 08:25:11
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braggadocio
发表于 2025-3-27 09:34:47
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凝结剂
发表于 2025-3-27 16:08:36
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Corroborate
发表于 2025-3-27 20:03:41
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happiness
发表于 2025-3-28 01:29:25
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十字架
发表于 2025-3-28 05:19:43
Book 2012JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
爱管闲事
发表于 2025-3-28 07:31:32
https://doi.org/10.1007/978-3-642-25752-0endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
Pageant
发表于 2025-3-28 12:54:07
978-3-642-25751-3SSIEM and Springer-Verlag Berlin Heidelberg 2012