dilate 发表于 2025-3-21 17:32:43

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胆小懦夫 发表于 2025-3-21 23:15:23

Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood,c/dystonic attacks and permanent neurologic deficits. Attacks tend to persist through life. Flunarizine therapy occasionally reduces the severity, duration and frequency of attacks. A ketogenic diet/modified Atkins diet (KD/MAD) can attenuate paroxysmal movement disorders associated with GLUT1 defic

Accrue 发表于 2025-3-22 00:39:06

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游行 发表于 2025-3-22 08:29:12

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厌恶 发表于 2025-3-22 09:51:36

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热烈的欢迎 发表于 2025-3-22 13:10:25

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FISC 发表于 2025-3-22 19:40:43

Mortality in Patients with Morquio Syndrome A,ctivity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age...: To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for

Ossification 发表于 2025-3-23 00:09:12

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maverick 发表于 2025-3-23 04:25:29

Common and Novel , Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopent generated by the mitochondrial respiratory chain. In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (. or .), encoding cV subunits, recessive mutations in the nuclear . are the most frequent cause of ATP synthase deficiency..We report on a cohort of ten Ital

jettison 发表于 2025-3-23 08:56:47

Newborn Screening for Galactosemia in the United States: Looking Back, Looking Around, and Looking e added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening fo
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查看完整版本: Titlebook: JIMD Reports, Volume 15; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 endo