Cumbersome
发表于 2025-3-25 06:03:25
Kari-Jouko Räihäm 5 to 1 and BFM score 42). Therefore, we conclude that DBS was a safe but ineffective intervention in our case with long-standing dystonia, whereas treatment of spasticity with dantrolene did improve the movement disorder in this young man with X-ALD.
玩笑
发表于 2025-3-25 11:22:35
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scrutiny
发表于 2025-3-25 13:27:16
Neil D. Jones,Michael Madsenof his PLP dose, LFTs showed improvement. However, at 8 years of age, there is persistent evidence of hepatic fibrosis and early portal hypertension. We hypothesise that hepatic toxicity due to PLP or its degradation products is the cause of cirrhosis in this boy. Until further evidence becomes avai
Herbivorous
发表于 2025-3-25 18:23:21
Martti Tienariess. Presymptomatic diagnosis and treatment are essential to prognosis. We report the case of 16-year-old macrocephalic female with late-onset GA-I and unusual paucisymptomatic presentation with fainting after exercise and widespread white matter signal changes at MRI. She was compound heterozygote
Detain
发表于 2025-3-25 21:34:50
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结合
发表于 2025-3-26 00:58:47
Valentin F. Turchind plasma phytanic acid level was found, whereas plasma levels of pristanic and very long chain fatty acids were normal. The patient is homozygous for a previously undescribed . frameshift mutation. Whether the very unusual phenotype is related to this peculiar mutation remains unclear.
好忠告人
发表于 2025-3-26 07:18:33
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N防腐剂
发表于 2025-3-26 12:29:29
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strdulate
发表于 2025-3-26 12:48:50
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Pseudoephedrine
发表于 2025-3-26 17:09:02
Hans Meijerent 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