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Titlebook: JIMD Reports, Volume 33; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inh

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發(fā)表于 2025-3-25 03:32:58 | 只看該作者
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發(fā)表于 2025-3-25 10:01:17 | 只看該作者
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease,FOIS)..Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding s
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,The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-partum management required a coordinated team approach including a high-calorie and restricted diet to reduce the risk of acute metabolic decompensation. During the induced labour she required 10% dextrose infusions..Post-partum it took the mother a long time to recover from childbirth – her appetit
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發(fā)表于 2025-3-26 12:13:51 | 只看該作者
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic , Mutations: Further Cases and Impln heterozygous form in patients with familial paraganglioma/pheochromocytoma and/or renal cell cancer. This is only the second example in the literature where one specific . mutation is associated with both recessive mitochondrial disease in one patient and familial paraganglioma/pheochromocytoma in
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