Publications:

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Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Yang, Chiju C; Shi, Caihong C; Zhou, Cheng C; Wan, Qiuhua Q; Zhou, Yanbin Y; Chen, Xigui X; Jin, Xianlian X; Huang, Chenggang C; Xu, Peng P

Publication Date: 2021-08-25

Variant appearance in text: ACADS: 1054G>A; A352T

PubMed Link: 34704412

Variant Present in the following documents:

• Main text

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Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Molecular Genetics And Metabolism Reports

Maguolo, A A; Rodella, G G; Dianin, A A; Nurti, R R; Monge, I I; Rigotti, E E; Cantalupo, G G; Salviati, L L; Tucci, S S; Pellegrini, F F; Molinaro, G G; Lupi, F F; Tonin, P P; Pasini, A A; Campostrini, N N; Ion Popa, F F; Teofoli, F F; Vincenzi, M M; Camilot, M M; Piacentini, G G; Bordugo, A A

Publication Date: 2020-09

Variant appearance in text: ACADS: Ala352Thr

PubMed Link: 32793418

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.xlsx, sheet 1

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B

Publication Date: 2019

Variant appearance in text: ACADS: 1054G>A

PubMed Link: 31737040

Variant Present in the following documents:

• Main text

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New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Frontiers In Genetics

Wang, Benjing B; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Ma, Jun J; Li, Hong H; Wang, Ting T

Publication Date: 2019

Variant appearance in text: ACADS: 1054G>A

PubMed Link: 31620161

Variant Present in the following documents:

• Main text
• fgene-10-00811.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ACADS: 1054G>A; Ala352Thr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics

Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS

Publication Date: 2019-01-06

Variant appearance in text: ACADS: 1054G>A; A352T

PubMed Link: 30612563

Variant Present in the following documents:

• Main text
• 12881_2018_Article_731.pdf

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Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Bba Clinical

Tonin, Rodolfo R; Caciotti, Anna A; Funghini, Silvia S; Pasquini, Elisabetta E; Mooney, Sean D SD; Cai, Binghuang B; Proncopio, Elena E; Donati, Maria Alice MA; Baronio, Federico F; Bettocchi, Ilaria I; Cassio, Alessandra A; Biasucci, Giacomo G; Bordugo, Andrea A; la Marca, Giancarlo G; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2016-06

Variant appearance in text: ACADS: Ala352Thr

PubMed Link: 27051597

Variant Present in the following documents:

• Main text
• main.pdf

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