First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU [0.03%]
苯酮尿症患儿首年度的代谢控制指南及其对未来代谢控制和神经认知功能的影响
Alicia de la Parra,María Ignacia García,Valerie Hamilton et al.
Alicia de la Parra et al.
There is a consensus on the importance of early and life-long treatment for PKU patients. Still, differences exist on target blood phenylalanine (Phe) concentrations for children with PKU in different countries and treatment centers. For th...
A Daly,A Pinto,S Evans et al.
A Daly et al.
Background: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance. ...
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up [0.03%]
酶替代治疗可缓解黏多糖贮积症VI型两日本患者弟妹的病情发展：为期十年的随访研究
Mahoko Furujo,Motomichi Kosuga,Torayuki Okuyama
Mahoko Furujo
Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamin...
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome [0.03%]
未经骨髓移植的Hurler综合征患者长期酶替代治疗的认知和躯体结局
Julie B Eisengart,Jeanine Jarnes,Alia Ahmed et al.
Julie B Eisengart et al.
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestat...
Neonatal screening for biotinidase deficiency: A 30-year single center experience [0.03%]
生物素激酶缺乏症的新生儿筛查：单中心30年经验
Francesco Porta,Veronica Pagliardini,Isabella Celestino et al.
Francesco Porta et al.
We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase defi...
Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report) [0.03%]
艾洛 sufase alpha 治疗改善莫奎奥氏综合征患者的病情(病例报告)
Misako Hiramatsu,Kimitoshi Nakamura
Misako Hiramatsu
Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved therapy in Japan for patients with Morquio A syndrome, a lysosomal storage disorder inherited in an autosomal recessive fashion. The experience with ERT in severely ...
Kellie Davis,Duncan Webster,Chris Smith et al.
Kellie Davis et al.
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficienc...
Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolism [0.03%]
先天性代谢缺陷患者血浆生长分化因子-21水平变化
Brian Kirmse,Juan Cabrerra-Luque,Omar Ayyub et al.
Brian Kirmse et al.
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We meas...
The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients [0.03%]
溶酶体相关基因导致的疾病在一组未诊断患者中的流行率
Filippo Pinto Vairo,Nicole J Boczek,Margot A Cousin et al.
Filippo Pinto Vairo et al.
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manife...
The cardiac glycoside convallatoxin inhibits the growth of colorectal cancer cells in a p53-independent manner [0.03%]
皇冠毒毛旋花子苷通过独立于p53的方式抑制结直肠癌细胞生长
Sarah E Anderson,Christopher E Barton
Sarah E Anderson
Cardiac glycosides are plant-derived molecules that have shown antiproliferative properties against cancer cells, though the mechanism of action is not completely understood. We show that one cardiac glycoside, convallatoxin, presents antip...