Publications:

A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.

Frontiers In Pediatrics

Zhao, Cong C; Peng, Hua H; Jiang, Nanchuan N; Liu, Yalan Y; Chen, Yan Y; Liu, Jie J; Guo, Qing Q; Wu, Zubo Z; Wang, Lin L

Publication Date: 2023

Variant appearance in text: MLYCD: 119T>C

PubMed Link: 37144154

Variant Present in the following documents:

• fped-11-1133134.pdf

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: MLYCD: 119T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MLYCD: 119T>C; Met40Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Crystal structures of malonyl-coenzyme A decarboxylase provide insights into its catalytic mechanism and disease-causing mutations.

Structure (London, England : 1993)

Froese, D Sean DS; Forouhar, Farhad F; Tran, Timothy H TH; Vollmar, Melanie M; Kim, Yi Seul YS; Lew, Scott S; Neely, Helen H; Seetharaman, Jayaraman J; Shen, Yang Y; Xiao, Rong R; Acton, Thomas B TB; Everett, John K JK; Cannone, Giuseppe G; Puranik, Sriharsha S; Savitsky, Pavel P; Krojer, Tobias T; Pilka, Ewa S ES; Kiyani, Wasim W; Lee, Wen Hwa WH; Marsden, Brian D BD; von Delft, Frank F; Allerston, Charles K CK; Spagnolo, Laura L; Gileadi, Opher O; Montelione, Gaetano T GT; Oppermann, Udo U; Yue, Wyatt W WW; Tong, Liang L

Publication Date: 2013-07-02

Variant appearance in text: MLYCD: M40T

PubMed Link: 23791943

Variant Present in the following documents:

• main.pdf

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