蛛丝 发表于 2025-3-26 23:18:40

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皱痕 发表于 2025-3-27 05:11:36

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胆小鬼 发表于 2025-3-27 09:12:58

Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presenthiatric or neurological manifestations, including atypical psychosis or depression, unexplained coma, peripheral neuropathy, cerebellar ataxia, spastic paraparesis, dementia, movement disorders and epilepsy. Physicians caring for adult patients with IEM are also involved in the management of those w

填料 发表于 2025-3-27 10:07:15

Diagnostic Proceduresemain the gold standard for many clinical presentations (hypoglycaemia, liver disease, epilepsy, neurodevelopmental delay, movement disorders, neuro-sensorial deficit, peripheral neuropathy, etc.). If an IEM is suspected, then blood, urine and cerebrospinal fluid should be collected for the appropri

debacle 发表于 2025-3-27 14:32:52

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acclimate 发表于 2025-3-27 18:20:34

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压倒性胜利 发表于 2025-3-27 22:05:30

Disorders of Galactose Metabolismncy of galactose-1-phosphate uridylyltransferase (GALT). Classic galactosemia can be life threatening in infancy with multiorgan involvement; long-term developmental and other complications are also common. Partial GALT deficiency ranges from having serious consequences in the newborn period to bein

沉着 发表于 2025-3-28 03:21:26

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opinionated 发表于 2025-3-28 09:44:54

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向宇宙 发表于 2025-3-28 10:53:47

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查看完整版本: Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Matthias R. Baumgartner,John Book 20166th edition Springer-Verlag Gmb