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231224s2016 xx |||||o 00| ||chi c |
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|a 10.3760/cma.j.issn.0578-1310.2016.05.011
|2 doi
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|a pubmed25n0866.xml
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|a (DE-627)NLM260003174
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|a (NLM)27143079
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a chi
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| 100 |
1 |
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|a Liu, Y P
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
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|c 2016
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 30.01.2017
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|a Date Revised 07.12.2022
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|a published: Print
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|a Citation Status MEDLINE
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|a OBJECTIVE: To study the clinical and genetic features of the patients with secondary methylmalonic aciduria due to succinate-CoA ligase deficiency
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|a METHOD: From February 2011 to April 2014, 4 Chinese patients with succinate-CoA ligase deficiency and mild methylmalonic aciduria were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and mutations were analyzed
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| 520 |
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|a RESULT: Four patients presented with severe psychomotor retardation, hypotonia, seizures, feeding problems and failure to thrive from the age of one day to 6 months. Three of them had intractable epilepsies. One had hearing defect. Mild methylmalonic aciduria was detected by elevated urine methylmalonic acid and blood propionylcarnitine at the age of 6 months to 2 years and 8 months. Five mutations, c. 550G>A, c. 751C>T, c. 809A>C, c. 961C>G and c. 826-2A>G in SUCLG1 of three patients were identified. On SUCLA2, one novel mutation, c. 970C>T, was found in one patient. After treatment, the disease in all four patients was improved
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|a CONCLUSION: Four Chinese patients with succinyl-CoA ligase deficiency caused by SUCLG1 and SUCLA2 mutations were noticed by mild methylmalonic aciduria and diagnosed using high-throughput genomic sequencing. Succinate-CoA ligase deficiency is a rare cause of methylmalonic aciduria. Biochemical and gene studies are necessary for the differential diagnoses
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|a Journal Article
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|a propionylcarnitine
|2 NLM
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|a 17298-37-2
|2 NLM
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|a Methylmalonic Acid
|2 NLM
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| 650 |
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|a 8LL8S712J7
|2 NLM
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| 650 |
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|a SUCLG1 protein, human
|2 NLM
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| 650 |
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7 |
|a EC 6.2.1.-
|2 NLM
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| 650 |
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|a Succinate-CoA Ligases
|2 NLM
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| 650 |
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|a EC 6.2.1.-
|2 NLM
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| 650 |
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|a SUCLA2 protein, human
|2 NLM
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| 650 |
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|a EC 6.2.1.5
|2 NLM
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| 650 |
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|a Carnitine
|2 NLM
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| 650 |
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7 |
|a S7UI8SM58A
|2 NLM
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| 700 |
1 |
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|a Li, X Y
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ding, Y
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wang, Q
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Song, J Q
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Zhang, Y
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Li, D X
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Qin, Y P
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Yang, Y L
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 54(2016), 5 vom: 03. Mai, Seite 365-9
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnas
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| 773 |
1 |
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|g volume:54
|g year:2016
|g number:5
|g day:03
|g month:05
|g pages:365-9
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| 856 |
4 |
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|u http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2016.05.011
|3 Volltext
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